The disease is caused by variants affecting the gene represented in this entry.
Feature key Position(s) DescriptionActions Graphical view Length
<p>This subsection of the 'Sequence' section describes natural variant(s) of the protein sequence.<p><a href='/help/variant' target='_top'>More...</a></p> Natural varianti VAR_018520 17 A → V in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs755654557 Ensembl .1 Natural varianti VAR_036228 19 R → H in a colorectal cancer sample and PKD4; somatic mutation; unknown pathological significance. Manual assertion based on experiment ini
"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T. ,
Jones S. ,
Wood L.D. ,
Parsons D.W. ,
Lin J. ,
Barber T.D. ,
Mandelker D. ,
Leary R.J. ,
Ptak J. ,
Silliman N. ,
Szabo S. ,
Buckhaults P. ,
Farrell C. ,
Meeh P. ,
Markowitz S.D. ,
Willis J. ,
Dawson D. ,
Willson J.K.V.
, Gazdar A.F. , Hartigan J. , Wu L. , Liu C. , Parmigiani G. , Park B.H. , Bachman K.E. , Papadopoulos N. , Vogelstein B. , Kinzler K.W. , Velculescu V.E. Science 314:268-274(2006) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-19; CYS-1081; ARG-1096; TRP-1624 AND LYS-1806.
"A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients." Tavira B. ,
Gomez J. ,
Malaga S. ,
Santos F. ,
Fernandez-Aracama J. ,
Alonso B. ,
Iglesias S. ,
Benavides A. ,
Hernando I. ,
Plasencia A. ,
Alvarez V. ,
Coto E. Gene 561:165-169(2015) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 HIS-19; MET-36; LYS-218; VAL-222; TRP-1624; TRP-1624; THR-2957 AND ILE-3289, VARIANTS MET-579; SER-830 AND LYS-2869.
Corresponds to variant dbSNP:rs1375765328 Ensembl .1 Natural varianti VAR_014039 36 T → M in PKD4; common mutation; also found in a patient affected by polycystic liver disease. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats." Onuchic L.F. ,
Furu L. ,
Nagasawa Y. ,
Hou X. ,
Eggermann T. ,
Ren Z. ,
Bergmann C. ,
Senderek J. ,
Esquivel E. ,
Zeltner R. ,
Rudnik-Schoeneborn S. ,
Mrug M. ,
Sweeney W. ,
Avner E.D. ,
Zerres K. ,
Guay-Woodford L.M. ,
Somlo S. ,
Germino G.G. Am. J. Hum. Genet. 70:1305-1317(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS PKD4 MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957, VARIANTS VAL-1870 AND TYR-3139.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
"A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients." Tavira B. ,
Gomez J. ,
Malaga S. ,
Santos F. ,
Fernandez-Aracama J. ,
Alonso B. ,
Iglesias S. ,
Benavides A. ,
Hernando I. ,
Plasencia A. ,
Alvarez V. ,
Coto E. Gene 561:165-169(2015) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 HIS-19; MET-36; LYS-218; VAL-222; TRP-1624; TRP-1624; THR-2957 AND ILE-3289, VARIANTS MET-579; SER-830 AND LYS-2869.
"Isolated polycystic liver disease genes define effectors of polycystin-1 function." Besse W. ,
Dong K. ,
Choi J. ,
Punia S. ,
Fedeles S.V. ,
Choi M. ,
Gallagher A.R. ,
Huang E.B. ,
Gulati A. ,
Knight J. ,
Mane S. ,
Tahvanainen E. ,
Tahvanainen P. ,
Sanna-Cherchi S. ,
Lifton R.P. ,
Watnick T. ,
Pei Y.P. ,
Torres V.E. ,
Somlo S. J. Clin. Invest. 127:1772-1785(2017) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS MET-36; 496-ARG--LEU-4074 DEL; ILE-2436; SER-2648; TYR-3024; 3070-GLN--LEU-4074 DEL; CYS-3210; ALA-3263; 3407-GLN--LEU-4074 DEL; SER-3780; 4009-TYR--LEU-4074 DEL; PRO-4037 AND 4048-GLN--LEU-4074 DEL.
Corresponds to variant dbSNP:rs137852944 Ensembl ClinVar .1 Natural varianti VAR_066416 92 R → W in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs370277502 Ensembl ClinVar .1 Natural varianti VAR_075540 218 E → K in PKD4; unknown pathological significance. Manual assertion based on experiment ini
"A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients." Tavira B. ,
Gomez J. ,
Malaga S. ,
Santos F. ,
Fernandez-Aracama J. ,
Alonso B. ,
Iglesias S. ,
Benavides A. ,
Hernando I. ,
Plasencia A. ,
Alvarez V. ,
Coto E. Gene 561:165-169(2015) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 HIS-19; MET-36; LYS-218; VAL-222; TRP-1624; TRP-1624; THR-2957 AND ILE-3289, VARIANTS MET-579; SER-830 AND LYS-2869.
Corresponds to variant dbSNP:rs149522482 Ensembl ClinVar .1 Natural varianti VAR_014040 222 I → V in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats." Onuchic L.F. ,
Furu L. ,
Nagasawa Y. ,
Hou X. ,
Eggermann T. ,
Ren Z. ,
Bergmann C. ,
Senderek J. ,
Esquivel E. ,
Zeltner R. ,
Rudnik-Schoeneborn S. ,
Mrug M. ,
Sweeney W. ,
Avner E.D. ,
Zerres K. ,
Guay-Woodford L.M. ,
Somlo S. ,
Germino G.G. Am. J. Hum. Genet. 70:1305-1317(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS PKD4 MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957, VARIANTS VAL-1870 AND TYR-3139.
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
"A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients." Tavira B. ,
Gomez J. ,
Malaga S. ,
Santos F. ,
Fernandez-Aracama J. ,
Alonso B. ,
Iglesias S. ,
Benavides A. ,
Hernando I. ,
Plasencia A. ,
Alvarez V. ,
Coto E. Gene 561:165-169(2015) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 HIS-19; MET-36; LYS-218; VAL-222; TRP-1624; TRP-1624; THR-2957 AND ILE-3289, VARIANTS MET-579; SER-830 AND LYS-2869.
Corresponds to variant dbSNP:rs369925690 Ensembl ClinVar .1 Natural varianti VAR_018522 223 G → S in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs749454235 Ensembl ClinVar .1 Natural varianti VAR_066417 246 I → T in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs1037991711 Ensembl ClinVar .1 Natural varianti VAR_014041 253 F → L in PKD4. Manual assertion based on experiment ini
"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats." Onuchic L.F. ,
Furu L. ,
Nagasawa Y. ,
Hou X. ,
Eggermann T. ,
Ren Z. ,
Bergmann C. ,
Senderek J. ,
Esquivel E. ,
Zeltner R. ,
Rudnik-Schoeneborn S. ,
Mrug M. ,
Sweeney W. ,
Avner E.D. ,
Zerres K. ,
Guay-Woodford L.M. ,
Somlo S. ,
Germino G.G. Am. J. Hum. Genet. 70:1305-1317(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS PKD4 MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957, VARIANTS VAL-1870 AND TYR-3139.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs775254013 Ensembl .1 Natural varianti VAR_066418 255 Y → C in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs886042259 Ensembl ClinVar .1 Natural varianti VAR_066420 293 A → V in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs398124499 Ensembl ClinVar .1 Natural varianti VAR_018523 307 I → T in PKD4. Manual assertion based on experiment ini
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
Corresponds to variant dbSNP:rs1288017883 Ensembl ClinVar .1 Natural varianti VAR_018524 326 G → V in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs778329699 Ensembl ClinVar .1 Natural varianti VAR_027439 372 F → L in PKD4. Manual assertion based on experiment ini
"Successful transplantation in a child with rapid progression of autosomal recessive polycystic kidney disease associated with a novel mutation." Prelog M. ,
Bergmann C. ,
Ausserlechner M.J. ,
Fischer H. ,
Margreiter R. ,
Gassner I. ,
Brunner A. ,
Jungraithmayr T.C. ,
Zerres K. ,
Sergi E.C. ,
Zimmerhackl L.B. Pediatr. Transplant. 10:362-366(2006) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANT PKD4 LEU-372.
1 Natural varianti VAR_018525 387 Missing in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs1554218506 Ensembl . 1 Natural varianti VAR_066421 466 G → E in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs750730042 Ensembl ClinVar .1 Natural varianti VAR_066422 470 G → V in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs776845008 Ensembl .1 Natural varianti VAR_018527 473 I → S in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_018528 486 Y → H in PKD4. Manual assertion based on experiment ini
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
1 Natural varianti VAR_018530 496 R → P in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_066423 539 I → T in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs749730748 Ensembl .1 Natural varianti VAR_018532 656 W → C in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_066424 686 H → P in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
1 Natural varianti VAR_018533 703 D → N in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_066426 724 P → R in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs1229139298 Ensembl .1 Natural varianti VAR_018535 739 P → L in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs758352210 Ensembl ClinVar .1 Natural varianti VAR_018536 757 I → L in PKD4; unknown pathological significance. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs777183511 Ensembl ClinVar .1 Natural varianti VAR_014044 760 R → H in PKD4. Manual assertion based on experiment ini
"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats." Onuchic L.F. ,
Furu L. ,
Nagasawa Y. ,
Hou X. ,
Eggermann T. ,
Ren Z. ,
Bergmann C. ,
Senderek J. ,
Esquivel E. ,
Zeltner R. ,
Rudnik-Schoeneborn S. ,
Mrug M. ,
Sweeney W. ,
Avner E.D. ,
Zerres K. ,
Guay-Woodford L.M. ,
Somlo S. ,
Germino G.G. Am. J. Hum. Genet. 70:1305-1317(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS PKD4 MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957, VARIANTS VAL-1870 AND TYR-3139.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs745770404 Ensembl ClinVar .1 Natural varianti VAR_018537 805 P → L in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
Corresponds to variant dbSNP:rs199531851 Ensembl ClinVar .1 Natural varianti VAR_018539 899 T → P in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs922828020 Ensembl .1 Natural varianti VAR_018540 997 M → K in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_018541 1030 A → E in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_014046 1122 G → S in PKD4. Manual assertion based on experiment ini
"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats." Onuchic L.F. ,
Furu L. ,
Nagasawa Y. ,
Hou X. ,
Eggermann T. ,
Ren Z. ,
Bergmann C. ,
Senderek J. ,
Esquivel E. ,
Zeltner R. ,
Rudnik-Schoeneborn S. ,
Mrug M. ,
Sweeney W. ,
Avner E.D. ,
Zerres K. ,
Guay-Woodford L.M. ,
Somlo S. ,
Germino G.G. Am. J. Hum. Genet. 70:1305-1317(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS PKD4 MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957, VARIANTS VAL-1870 AND TYR-3139.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_018542 1123 G → S in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs142107837 Ensembl ClinVar .1 Natural varianti VAR_014048 1249 C → W in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs748540413 Ensembl ClinVar .1 Natural varianti VAR_018546 1389 P → T in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
1 Natural varianti VAR_014050 1407 L → R in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_018547 1472 C → Y in PKD4. Manual assertion based on experiment ini
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
1 Natural varianti VAR_018548 1486 P → L in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs1421520936 Ensembl .1 Natural varianti VAR_018549 1584 S → I in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs1197981811 Ensembl ClinVar .1 Natural varianti VAR_014051 1624 R → W in PKD4; unknown pathological significance. Manual assertion based on experiment ini
"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats." Onuchic L.F. ,
Furu L. ,
Nagasawa Y. ,
Hou X. ,
Eggermann T. ,
Ren Z. ,
Bergmann C. ,
Senderek J. ,
Esquivel E. ,
Zeltner R. ,
Rudnik-Schoeneborn S. ,
Mrug M. ,
Sweeney W. ,
Avner E.D. ,
Zerres K. ,
Guay-Woodford L.M. ,
Somlo S. ,
Germino G.G. Am. J. Hum. Genet. 70:1305-1317(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS PKD4 MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957, VARIANTS VAL-1870 AND TYR-3139.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
"The consensus coding sequences of human breast and colorectal cancers." Sjoeblom T. ,
Jones S. ,
Wood L.D. ,
Parsons D.W. ,
Lin J. ,
Barber T.D. ,
Mandelker D. ,
Leary R.J. ,
Ptak J. ,
Silliman N. ,
Szabo S. ,
Buckhaults P. ,
Farrell C. ,
Meeh P. ,
Markowitz S.D. ,
Willis J. ,
Dawson D. ,
Willson J.K.V.
, Gazdar A.F. , Hartigan J. , Wu L. , Liu C. , Parmigiani G. , Park B.H. , Bachman K.E. , Papadopoulos N. , Vogelstein B. , Kinzler K.W. , Velculescu V.E. Science 314:268-274(2006) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS [LARGE SCALE ANALYSIS] HIS-19; CYS-1081; ARG-1096; TRP-1624 AND LYS-1806.
"A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients." Tavira B. ,
Gomez J. ,
Malaga S. ,
Santos F. ,
Fernandez-Aracama J. ,
Alonso B. ,
Iglesias S. ,
Benavides A. ,
Hernando I. ,
Plasencia A. ,
Alvarez V. ,
Coto E. Gene 561:165-169(2015) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 HIS-19; MET-36; LYS-218; VAL-222; TRP-1624; TRP-1624; THR-2957 AND ILE-3289, VARIANTS MET-579; SER-830 AND LYS-2869.
Corresponds to variant dbSNP:rs200391019 Ensembl ClinVar .1 Natural varianti VAR_014052 1664 S → F in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs28937907 Ensembl ClinVar .1 Natural varianti VAR_014053 1741 V → M in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs137852946 Ensembl ClinVar .1 Natural varianti VAR_018551 1781 T → I in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs1554197025 Ensembl ClinVar .1 Natural varianti VAR_018552 1789 V → L in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs1288521396 Ensembl ClinVar .1 Natural varianti VAR_066428 1817 V → G in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
1 Natural varianti VAR_018553 1833 S → L in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs201105958 Ensembl ClinVar .1 Natural varianti VAR_018554 1838 Y → C in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs777999875 Ensembl ClinVar .1 Natural varianti VAR_018555 1867 S → N in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
1 Natural varianti VAR_066429 1875 V → G in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs202016058 Ensembl .1 Natural varianti VAR_014054 1917 Q → R in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs1412045164 Ensembl ClinVar .1 Natural varianti VAR_066430 1928 W → L in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
1 Natural varianti VAR_018557 1942 D → G in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs1210846081 Ensembl ClinVar .1 Natural varianti VAR_018558 1971 G → D in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs180675584 Ensembl ClinVar .1 Natural varianti VAR_014055 1995 E → G in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs1554144359 Ensembl ClinVar .1 Natural varianti VAR_018559 1998 I → T in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs1210348558 Ensembl ClinVar .1 Natural varianti VAR_066431 2009 A → T in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs761786260 Ensembl .1 Natural varianti VAR_018560 2032 V → L in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs1187112770 Ensembl .1 Natural varianti VAR_066432 2106 L → R in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs1254909885 Ensembl .1 Natural varianti VAR_018561 2134 L → P in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
1 Natural varianti VAR_066433 2210 G → E in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
1 Natural varianti VAR_066434 2219 S → L in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
1 Natural varianti VAR_066435 2224 G → R in PKD4; may affect splicing. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs759687904 Ensembl .1 Natural varianti VAR_018562 2303 I → F in PKD4. Manual assertion based on experiment ini
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
Corresponds to variant dbSNP:rs751084512 Ensembl ClinVar .1 Natural varianti VAR_014056 2331 I → K in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs200179145 Ensembl ClinVar .1 Natural varianti VAR_018563 2422 C → G in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs201881567 Ensembl ClinVar .1 Natural varianti VAR_066436 2422 C → R in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs201881567 Ensembl ClinVar .1 Natural varianti VAR_066437 2431 E → V in PKD4; may affect splicing. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs1280884139 Ensembl .1 Natural varianti VAR_066438 2573 R → C in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs752994816 Ensembl ClinVar .1 Natural varianti VAR_018566 2688 C → F in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
1 Natural varianti VAR_018567 2761 D → Y in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs1554263080 Ensembl ClinVar .1 Natural varianti VAR_018568 2772 L → P in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
1 Natural varianti VAR_066440 2798 V → G in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs1554243589 Ensembl ClinVar .1 Natural varianti VAR_066441 2803 C → R in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs398124495 Ensembl ClinVar .1 Natural varianti VAR_066442 2804 M → K in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs794727759 Ensembl ClinVar .1 Natural varianti VAR_018570 2863 Y → C in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs1342555536 Ensembl .1 Natural varianti VAR_014058 2957 I → T in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"PKHD1, the polycystic kidney and hepatic disease 1 gene, encodes a novel large protein containing multiple immunoglobulin-like-plexin-transcription-factor domains and parallel beta-helix 1 repeats." Onuchic L.F. ,
Furu L. ,
Nagasawa Y. ,
Hou X. ,
Eggermann T. ,
Ren Z. ,
Bergmann C. ,
Senderek J. ,
Esquivel E. ,
Zeltner R. ,
Rudnik-Schoeneborn S. ,
Mrug M. ,
Sweeney W. ,
Avner E.D. ,
Zerres K. ,
Guay-Woodford L.M. ,
Somlo S. ,
Germino G.G. Am. J. Hum. Genet. 70:1305-1317(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), ALTERNATIVE SPLICING, VARIANTS PKD4 MET-36; VAL-222; LEU-253; HIS-760; SER-1122; TRP-1624 AND THR-2957, VARIANTS VAL-1870 AND TYR-3139.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
"A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients." Tavira B. ,
Gomez J. ,
Malaga S. ,
Santos F. ,
Fernandez-Aracama J. ,
Alonso B. ,
Iglesias S. ,
Benavides A. ,
Hernando I. ,
Plasencia A. ,
Alvarez V. ,
Coto E. Gene 561:165-169(2015) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 HIS-19; MET-36; LYS-218; VAL-222; TRP-1624; TRP-1624; THR-2957 AND ILE-3289, VARIANTS MET-579; SER-830 AND LYS-2869.
Corresponds to variant dbSNP:rs760222236 Ensembl ClinVar .1 Natural varianti VAR_018572 2962 D → G in PKD4. Manual assertion based on experiment ini
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
Corresponds to variant dbSNP:rs1554220680 Ensembl ClinVar .1 Natural varianti VAR_018573 2983 S → L in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs141169758 Ensembl ClinVar .1 Natural varianti VAR_014059 3018 S → F in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs137852945 Ensembl ClinVar .1 Natural varianti VAR_018574 3036 V → G in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs893497345 Ensembl ClinVar .1 Natural varianti VAR_066443 3049 H → R in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs367678592 Ensembl ClinVar .1 Natural varianti VAR_018576 3081 I → V in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs142146981 Ensembl ClinVar .1 Natural varianti VAR_018579 3124 H → Y in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
Corresponds to variant dbSNP:rs1554218666 Ensembl ClinVar .1 Natural varianti VAR_018581 3167 I → L in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
1 Natural varianti VAR_018582 3175 N → D in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
1 Natural varianti VAR_018583 3175 N → S in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Corresponds to variant dbSNP:rs1343246818 Ensembl ClinVar .1 Natural varianti VAR_018584 3177 I → T in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
Corresponds to variant dbSNP:rs200511261 Ensembl ClinVar .1 Natural varianti VAR_066444 3207 A → T in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs1242089464 Ensembl ClinVar .1 Natural varianti VAR_018585 3289 S → I in PKD4; unknown pathological significance. Manual assertion based on experiment ini
"A labor and cost effective next generation sequencing of PKHD1 in autosomal recessive polycystic kidney disease patients." Tavira B. ,
Gomez J. ,
Malaga S. ,
Santos F. ,
Fernandez-Aracama J. ,
Alonso B. ,
Iglesias S. ,
Benavides A. ,
Hernando I. ,
Plasencia A. ,
Alvarez V. ,
Coto E. Gene 561:165-169(2015) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 HIS-19; MET-36; LYS-218; VAL-222; TRP-1624; TRP-1624; THR-2957 AND ILE-3289, VARIANTS MET-579; SER-830 AND LYS-2869.
Corresponds to variant dbSNP:rs148932323 Ensembl ClinVar .1 Natural varianti VAR_018586 3293 D → V in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
1 Natural varianti VAR_018587 3346 C → R in PKD4; unknown pathological significance. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs149798764 Ensembl ClinVar .1 Natural varianti VAR_018589 3468 I → V in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs748863662 Ensembl ClinVar .1 Natural varianti VAR_018590 3471 V → G in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs137852950 Ensembl ClinVar .1 Natural varianti VAR_018591 3482 R → C in PKD4. Manual assertion based on experiment ini
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
"PKHD1 mutations in families requesting prenatal diagnosis for autosomal recessive polycystic kidney disease (ARPKD)." Bergmann C. ,
Senderek J. ,
Schneider F. ,
Dornia C. ,
Kuepper F. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Kirfel J. ,
Moser M. ,
Buettner R. ,
Zerres K. Hum. Mutat. 23:487-495(2004) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; THR-307; HIS-486; LEU-805; TYR-1472; PHE-2303; THR-2957; GLY-2962; TYR-3124; THR-3177 AND CYS-3482, VARIANTS LYS-2869 AND TYR-3139.
Corresponds to variant dbSNP:rs148617572 Ensembl ClinVar .1 Natural varianti VAR_018592 3502 E → V in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
Corresponds to variant dbSNP:rs1554183496 Ensembl ClinVar .1 Natural varianti VAR_014061 3553 I → T in PKD4. Manual assertion based on experiment ini
"The gene mutated in autosomal recessive polycystic kidney disease encodes a large, receptor-like protein." Ward C.J. ,
Hogan M.C. ,
Rossetti S. ,
Walker D. ,
Sneddon T. ,
Wang X. ,
Kubly V. ,
Cunningham J.M. ,
Bacallao R. ,
Ishibashi M. ,
Milliner D.S. ,
Torres V.E. ,
Harris P.C. Nat. Genet. 30:259-269(2002) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), FUNCTION, VARIANTS PKD4 MET-36; VAL-222; TRP-1249; ARG-1407; PHE-1664; MET-1741; ARG-1917; GLY-1995; LYS-2331; THR-2957; PHE-3018 AND THR-3553, VARIANTS VAL-25; MET-752; CYS-760; ARG-852; VAL-1262; MET-2938; TYR-3139; ILE-3960 AND ARG-4048.
"Spectrum of mutations in the gene for autosomal recessive polycystic kidney disease (ARPKD/PKHD1)." Bergmann C. ,
Senderek J. ,
Sedlacek B. ,
Pegiazoglou I. ,
Puglia P. ,
Eggermann T. ,
Rudnik-Schoeneborn S. ,
Furu L. ,
Onuchic L.F. ,
De Baca M. ,
Germino G.G. ,
Guay-Woodford L. ,
Somlo S. ,
Moser M. ,
Buettner R. ,
Zerres K. J. Am. Soc. Nephrol. 14:76-89(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; SER-223; LEU-253; SER-473; PRO-496; CYS-656; ASN-703; HIS-760; LEU-805; LYS-997; GLU-1030; SER-1122; SER-1123; TRP-1249; ARG-1407; LEU-1486; TRP-1624; PHE-1664; MET-1741; ARG-1917; GLY-1995; THR-1998; PRO-2134; LYS-2331; TYR-2761; THR-2957; PHE-3018; VAL-3081; VAL-3293; GLY-3471; CYS-3482 AND THR-3553, VARIANTS MET-579; SER-830 AND TYR-3139.
Corresponds to variant dbSNP:rs137852948 Ensembl ClinVar .1 Natural varianti VAR_018596 3622 C → Y in PKD4. Manual assertion based on experiment ini
Cited for: VARIANTS PKD4 VAL-17; MET-36; VAL-222; LEU-739; LEU-757; LEU-805; THR-1389; MET-1741; LEU-1833; CYS-1838; ASN-1867; GLY-1942; PHE-2688; THR-2957; THR-3177; ARG-3346; VAL-3468; VAL-3502 AND TYR-3622, VARIANTS CYS-760; SER-830; VAL-1262; PHE-1709; VAL-1870; LYS-2869; TYR-3139; ARG-3505; GLN-3529; ARG-3899; ILE-3960 AND ARG-4048.
1 Natural varianti VAR_018597 3783 P → S in PKD4. Manual assertion based on experiment ini
"Milder presentation of recessive polycystic kidney disease requires presence of amino acid substitution mutations." Furu L. ,
Onuchic L.F. ,
Gharavi A. ,
Hou X. ,
Esquivel E.L. ,
Nagasawa Y. ,
Bergmann C. ,
Senderek J. ,
Avner E. ,
Zerres K. ,
Germino G.G. ,
Guay-Woodford L.M. ,
Somlo S. J. Am. Soc. Nephrol. 14:2004-2014(2003) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 MET-36; VAL-326; ASN-387 DEL; PRO-899; SER-1123; ILE-1584; ILE-1781; LEU-1789; GLY-1942; ASP-1971; LEU-2032; GLY-2422; PRO-2772; CYS-2863; THR-2957; LEU-2983; GLY-3036; TYR-3124; LEU-3167; ASP-3175; SER-3175; THR-3177; VAL-3293 AND SER-3783, VARIANTS ASP-457; PHE-732; CYS-760; PRO-1150; LEU-1283; PHE-1709; VAL-1870; GLY-2615; ALA-2641; GLY-2861; LYS-2869; TYR-3139; ILE-3143; ASP-3440; LYS-3551; ARG-3899 AND ILE-3960.
1 Natural varianti VAR_066446 3957 R → C in PKD4. Manual assertion based on experiment ini
"PKHD1 sequence variations in 78 children and adults with autosomal recessive polycystic kidney disease and congenital hepatic fibrosis." Gunay-Aygun M. ,
Tuchman M. ,
Font-Montgomery E. ,
Lukose L. ,
Edwards H. ,
Garcia A. ,
Ausavarat S. ,
Ziegler S.G. ,
Piwnica-Worms K. ,
Bryant J. ,
Bernardini I. ,
Fischer R. ,
Huizing M. ,
Guay-Woodford L. ,
Gahl W.A. Mol. Genet. Metab. 99:160-173(2010) [
PubMed ] [
Europe PMC ] [
Abstract ]
Cited for: VARIANTS PKD4 TRP-92; THR-246; CYS-255; VAL-293; GLU-466; VAL-470; THR-539; PRO-686; ARG-724; ARG-1712; GLY-1817; GLY-1875; LEU-1928; THR-2009; ARG-2106; GLU-2210; LEU-2219; ARG-2224; ARG-2422; VAL-2431; CYS-2573; GLY-2798; ARG-2803; LYS-2804; ARG-3049; THR-3207 AND CYS-3957, VARIANTS VAL-292; CYS-723; HIS-2661 AND ALA-3219.
Corresponds to variant dbSNP:rs146680689 Ensembl ClinVar .1