ID LMX1B_HUMAN Reviewed; 402 AA. AC O60663; F8W7W6; O75463; Q5JU95; Q6ISC9; DT 15-DEC-1998, integrated into UniProtKB/Swiss-Prot. DT 01-MAY-2013, sequence version 3. DT 27-MAR-2024, entry version 206. DE RecName: Full=LIM homeobox transcription factor 1-beta; DE AltName: Full=LIM/homeobox protein 1.2; DE Short=LMX-1.2; DE AltName: Full=LIM/homeobox protein LMX1B; GN Name=LMX1B; OS Homo sapiens (Human). OC Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; OC Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; OC Homo. OX NCBI_TaxID=9606; RN [1] RP NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 1), AND VARIANT NPS PHE-118. RX PubMed=9618165; DOI=10.1093/hmg/7.7.1091; RA Vollrath D., Jaramillo-Babb V.L., Clough M.V., McIntosh I., Scott K.M., RA Lichter P.R., Richards J.E.; RT "Loss-of-function mutations in the LIM-homeodomain gene, LMX1B, in nail- RT patella syndrome."; RL Hum. Mol. Genet. 7:1091-1098(1998). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RX PubMed=15164053; DOI=10.1038/nature02465; RA Humphray S.J., Oliver K., Hunt A.R., Plumb R.W., Loveland J.E., Howe K.L., RA Andrews T.D., Searle S., Hunt S.E., Scott C.E., Jones M.C., Ainscough R., RA Almeida J.P., Ambrose K.D., Ashwell R.I.S., Babbage A.K., Babbage S., RA Bagguley C.L., Bailey J., Banerjee R., Barker D.J., Barlow K.F., Bates K., RA Beasley H., Beasley O., Bird C.P., Bray-Allen S., Brown A.J., Brown J.Y., RA Burford D., Burrill W., Burton J., Carder C., Carter N.P., Chapman J.C., RA Chen Y., Clarke G., Clark S.Y., Clee C.M., Clegg S., Collier R.E., RA Corby N., Crosier M., Cummings A.T., Davies J., Dhami P., Dunn M., RA Dutta I., Dyer L.W., Earthrowl M.E., Faulkner L., Fleming C.J., RA Frankish A., Frankland J.A., French L., Fricker D.G., Garner P., RA Garnett J., Ghori J., Gilbert J.G.R., Glison C., Grafham D.V., Gribble S., RA Griffiths C., Griffiths-Jones S., Grocock R., Guy J., Hall R.E., RA Hammond S., Harley J.L., Harrison E.S.I., Hart E.A., Heath P.D., RA Henderson C.D., Hopkins B.L., Howard P.J., Howden P.J., Huckle E., RA Johnson C., Johnson D., Joy A.A., Kay M., Keenan S., Kershaw J.K., RA Kimberley A.M., King A., Knights A., Laird G.K., Langford C., Lawlor S., RA Leongamornlert D.A., Leversha M., Lloyd C., Lloyd D.M., Lovell J., RA Martin S., Mashreghi-Mohammadi M., Matthews L., McLaren S., McLay K.E., RA McMurray A., Milne S., Nickerson T., Nisbett J., Nordsiek G., Pearce A.V., RA Peck A.I., Porter K.M., Pandian R., Pelan S., Phillimore B., Povey S., RA Ramsey Y., Rand V., Scharfe M., Sehra H.K., Shownkeen R., Sims S.K., RA Skuce C.D., Smith M., Steward C.A., Swarbreck D., Sycamore N., Tester J., RA Thorpe A., Tracey A., Tromans A., Thomas D.W., Wall M., Wallis J.M., RA West A.P., Whitehead S.L., Willey D.L., Williams S.A., Wilming L., RA Wray P.W., Young L., Ashurst J.L., Coulson A., Blocker H., Durbin R.M., RA Sulston J.E., Hubbard T., Jackson M.J., Bentley D.R., Beck S., Rogers J., RA Dunham I.; RT "DNA sequence and analysis of human chromosome 9."; RL Nature 429:369-374(2004). RN [3] RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]. RA Mural R.J., Istrail S., Sutton G.G., Florea L., Halpern A.L., Mobarry C.M., RA Lippert R., Walenz B., Shatkay H., Dew I., Miller J.R., Flanigan M.J., RA Edwards N.J., Bolanos R., Fasulo D., Halldorsson B.V., Hannenhalli S., RA Turner R., Yooseph S., Lu F., Nusskern D.R., Shue B.C., Zheng X.H., RA Zhong F., Delcher A.L., Huson D.H., Kravitz S.A., Mouchard L., Reinert K., RA Remington K.A., Clark A.G., Waterman M.S., Eichler E.E., Adams M.D., RA Hunkapiller M.W., Myers E.W., Venter J.C.; RL Submitted (JUL-2005) to the EMBL/GenBank/DDBJ databases. RN [4] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 8-402 (ISOFORM 2). RX PubMed=15489334; DOI=10.1101/gr.2596504; RG The MGC Project Team; RT "The status, quality, and expansion of the NIH full-length cDNA project: RT the Mammalian Gene Collection (MGC)."; RL Genome Res. 14:2121-2127(2004). RN [5] RP NUCLEOTIDE SEQUENCE [MRNA] OF 24-402 (ISOFORM 2), AND VARIANT NPS LYS-269. RX PubMed=9590287; DOI=10.1038/ng0598-47; RA Dreyer S.D., Zhou G., Baldini A., Winterpacht A., Zabel B., Cole W., RA Johnson R.L., Lee B.; RT "Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia RT in nail patella syndrome."; RL Nat. Genet. 19:47-50(1998). RN [6] RP INTERACTION WITH DHX9. RX PubMed=23308148; DOI=10.1371/journal.pone.0053122; RA Hoekstra E.J., Mesman S., de Munnik W.A., Smidt M.P.; RT "LMX1B is part of a transcriptional complex with PSPC1 and PSF."; RL PLoS ONE 8:E53122-E53122(2013). RN [7] RP VARIANTS NPS TRP-165; GLN-223; PRO-236; PRO-241; PRO-249; VAL-253 AND RP LYS-269. RX PubMed=9837817; DOI=10.1086/302165; RA McIntosh I., Dreyer S.D., Clough M.V., Dunston J.A., Eyaid W., Roig C.M., RA Montgomery T., Ala-Mello S., Kaitila I., Winterpacht A., Zabel B., RA Frydman M., Cole W.G., Francomano C.A., Lee B.; RT "Mutation analysis of LMX1B gene in nail-patella syndrome patients."; RL Am. J. Hum. Genet. 63:1651-1658(1998). RN [8] RP VARIANTS NPS ARG-59; SER-59; GLN-77; TYR-77; ARG-80; GLY-83; TYR-83; RP ARG-86; GLY-106; TYR-118; SER-143; PHE-146; TYR-146 AND PRO-252. RX PubMed=10571942; RX DOI=10.1002/(sici)1098-1004(199912)14:6<459::aid-humu3>3.0.co;2-9; RA Clough M.V., Hamlington J.D., McIntosh I.; RT "Restricted distribution of loss-of-function mutations within the LMX1B RT genes of nail-patella syndrome patients."; RL Hum. Mutat. 14:459-465(1999). RN [9] RP VARIANTS NPS ASN-77; TRP-81; PHE-83; TRP-83; TRP-103; TYR-118; TYR-137; RP TYR-140; GLN-223; PRO-236; CYS-266 AND LYS-269. RX PubMed=11668639; DOI=10.1002/humu.1217.abs; RA Hamlington J.D., Jones C., McIntosh I.; RT "Twenty-two novel LMX1B mutations identified in nail patella syndrome (NPS) RT patients."; RL Hum. Mutat. 18:458-458(2001). RN [10] RP VARIANTS FSGS10 GLN-246 AND PRO-246, AND INVOLVEMENT IN FSGS10. RX PubMed=23687361; DOI=10.1681/asn.2013020171; RA Boyer O., Woerner S., Yang F., Oakeley E.J., Linghu B., Gribouval O., RA Tete M.J., Duca J.S., Klickstein L., Damask A.J., Szustakowski J.D., RA Heibel F., Matignon M., Baudouin V., Chantrel F., Champigneulle J., RA Martin L., Nitschke P., Gubler M.C., Johnson K.J., Chibout S.D., RA Antignac C.; RT "LMX1B mutations cause hereditary FSGS without extrarenal involvement."; RL J. Am. Soc. Nephrol. 24:1216-1222(2013). RN [11] RP VARIANT FSGS10 GLN-246, CHARACTERIZATION OF VARIANT FSGS10 GLN-246, RP INVOLVEMENT IN FSGS10, FUNCTION, AND MUTAGENESIS OF VAL-265. RX PubMed=24042019; DOI=10.1093/ndt/gft359; RA Isojima T., Harita Y., Furuyama M., Sugawara N., Ishizuka K., Horita S., RA Kajiho Y., Miura K., Igarashi T., Hattori M., Kitanaka S.; RT "LMX1B mutation with residual transcriptional activity as a cause of RT isolated glomerulopathy."; RL Nephrol. Dial. Transplant. 29:81-88(2014). RN [12] RP VARIANT FSGS10 GLN-246, AND INVOLVEMENT IN FSGS10. RX PubMed=26560070; DOI=10.1111/nep.12666; RA Konomoto T., Imamura H., Orita M., Tanaka E., Moritake H., Sato Y., RA Fujimoto S., Harita Y., Hisano S., Yoshiura K., Nunoi H.; RT "Clinical and histological findings of autosomal dominant renal-limited RT disease with LMX1B mutation."; RL Nephrology 21:765-773(2016). RN [13] RP VARIANT FSGS10 GLN-246, INVOLVEMENT IN FSGS10, AND FUNCTION. RX PubMed=28059119; DOI=10.1038/srep39933; RA Hall G., Lane B., Chryst-Ladd M., Wu G., Lin J.J., Qin X., Hauser E.R., RA Gbadegesin R.; RT "Dysregulation of WTI (-KTS) is associated with the kidney-specific effects RT of the LMX1B R246Q mutation."; RL Sci. Rep. 7:39933-39933(2017). RN [14] RP VARIANT FSGS10 GLN-246. RX PubMed=32791958; DOI=10.1186/s12882-020-02012-3; RA Pinto E Vairo F., Pichurin P.N., Fervenza F.C., Nasr S.H., Mills K., RA Schmitz C.T., Klee E.W., Herrmann S.M.; RT "Nail-patella-like renal disease masquerading as Fabry disease on kidney RT biopsy: a case report."; RL BMC Nephrol. 21:341-341(2020). RN [15] RP VARIANT FSGS10 GLN-246. RX PubMed=32356190; DOI=10.1007/s00467-020-04564-w; RA Lei L., Oh G., Sutherland S., Abra G., Higgins J., Sibley R., Troxell M., RA Kambham N.; RT "Myelin bodies in LMX1B-associated nephropathy: potential for RT misdiagnosis."; RL Pediatr. Nephrol. 35:1647-1657(2020). CC -!- FUNCTION: Transcription factor involved in the regulation of podocyte- CC expressed genes (PubMed:24042019, PubMed:28059119). Essential for the CC specification of dorsal limb fate at both the zeugopodal and autopodal CC levels. {ECO:0000269|PubMed:24042019, ECO:0000269|PubMed:28059119}. CC -!- SUBUNIT: Interacts with DHX9 (PubMed:23308148). CC {ECO:0000269|PubMed:23308148}. CC -!- INTERACTION: CC O60663-2; Q02930-3: CREB5; NbExp=3; IntAct=EBI-10258690, EBI-10192698; CC O60663-2; P49639: HOXA1; NbExp=3; IntAct=EBI-10258690, EBI-740785; CC O60663-2; Q86U70: LDB1; NbExp=3; IntAct=EBI-10258690, EBI-677177; CC O60663-2; Q86U70-2: LDB1; NbExp=4; IntAct=EBI-10258690, EBI-11979761; CC O60663-2; Q02962: PAX2; NbExp=3; IntAct=EBI-10258690, EBI-1805765; CC -!- SUBCELLULAR LOCATION: Nucleus {ECO:0000255|PROSITE-ProRule:PRU00108}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=3; CC Name=1; Synonyms=Long; CC IsoId=O60663-1; Sequence=Displayed; CC Name=2; Synonyms=Short; CC IsoId=O60663-2; Sequence=VSP_003113; CC Name=3; CC IsoId=O60663-3; Sequence=VSP_046472, VSP_003113; CC -!- TISSUE SPECIFICITY: Expressed in most tissues. Highest levels in CC testis, thyroid, duodenum, skeletal muscle, and pancreatic islets. CC -!- DISEASE: Nail-patella syndrome (NPS) [MIM:161200]: Disease that cause CC abnormal skeletal patterning and renal dysplasia. CC {ECO:0000269|PubMed:10571942, ECO:0000269|PubMed:11668639, CC ECO:0000269|PubMed:9590287, ECO:0000269|PubMed:9618165, CC ECO:0000269|PubMed:9837817}. Note=The disease is caused by variants CC affecting the gene represented in this entry. CC -!- DISEASE: Focal segmental glomerulosclerosis 10 (FSGS10) [MIM:256020]: CC An autosomal dominant form of focal segmental glomerulosclerosis, a CC renal pathology defined by the presence of segmental sclerosis in CC glomeruli and resulting in proteinuria, reduced glomerular filtration CC rate and progressive decline in renal function. Renal insufficiency CC often progresses to end-stage renal disease, a highly morbid state CC requiring either dialysis therapy or kidney transplantation. CC {ECO:0000269|PubMed:23687361, ECO:0000269|PubMed:24042019, CC ECO:0000269|PubMed:26560070, ECO:0000269|PubMed:28059119, CC ECO:0000269|PubMed:32356190, ECO:0000269|PubMed:32791958}. Note=The CC disease is caused by variants affecting the gene represented in this CC entry. CC -!- SEQUENCE CAUTION: CC Sequence=AAC27294.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAC39738.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAH69601.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAI12121.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=AAI13492.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC Sequence=EAW87642.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; CC --------------------------------------------------------------------------- CC Copyrighted by the UniProt Consortium, see https://www.uniprot.org/terms CC Distributed under the Creative Commons Attribution (CC BY 4.0) License CC --------------------------------------------------------------------------- DR EMBL; AF059575; AAC27294.1; ALT_INIT; Genomic_DNA. DR EMBL; AF059572; AAC27294.1; JOINED; Genomic_DNA. DR EMBL; AF059573; AAC27294.1; JOINED; Genomic_DNA. DR EMBL; AF059574; AAC27294.1; JOINED; Genomic_DNA. DR EMBL; AL161731; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AL161908; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471090; EAW87642.1; ALT_INIT; Genomic_DNA. DR EMBL; BC069601; AAH69601.1; ALT_INIT; mRNA. DR EMBL; BC112120; AAI12121.1; ALT_INIT; mRNA. DR EMBL; BC113491; AAI13492.1; ALT_INIT; mRNA. DR EMBL; AF057135; AAC39738.1; ALT_INIT; mRNA. DR CCDS; CCDS55342.1; -. [O60663-1] DR CCDS; CCDS55343.1; -. [O60663-3] DR CCDS; CCDS6866.2; -. [O60663-2] DR RefSeq; NP_001167618.1; NM_001174147.1. [O60663-1] DR RefSeq; NP_002307.2; NM_002316.3. [O60663-2] DR AlphaFoldDB; O60663; -. DR SMR; O60663; -. DR BioGRID; 110195; 102. DR IntAct; O60663; 21. DR MINT; O60663; -. DR STRING; 9606.ENSP00000347684; -. DR iPTMnet; O60663; -. DR PhosphoSitePlus; O60663; -. DR BioMuta; LMX1B; -. DR MassIVE; O60663; -. DR PaxDb; 9606-ENSP00000347684; -. DR PeptideAtlas; O60663; -. DR ProteomicsDB; 30025; -. DR ProteomicsDB; 49506; -. [O60663-1] DR ProteomicsDB; 49507; -. [O60663-2] DR Pumba; O60663; -. DR Antibodypedia; 30610; 305 antibodies from 36 providers. DR DNASU; 4010; -. DR Ensembl; ENST00000355497.10; ENSP00000347684.5; ENSG00000136944.19. [O60663-3] DR Ensembl; ENST00000373474.9; ENSP00000362573.3; ENSG00000136944.19. [O60663-1] DR Ensembl; ENST00000526117.6; ENSP00000436930.1; ENSG00000136944.19. [O60663-2] DR GeneID; 4010; -. DR KEGG; hsa:4010; -. DR MANE-Select; ENST00000373474.9; ENSP00000362573.3; NM_001174147.2; NP_001167618.1. DR UCSC; uc004bqi.4; human. [O60663-1] DR AGR; HGNC:6654; -. DR CTD; 4010; -. DR DisGeNET; 4010; -. DR GeneCards; LMX1B; -. DR GeneReviews; LMX1B; -. DR HGNC; HGNC:6654; LMX1B. DR HPA; ENSG00000136944; Tissue enriched (salivary). DR MalaCards; LMX1B; -. DR MIM; 161200; phenotype. DR MIM; 256020; phenotype. DR MIM; 602575; gene. DR neXtProt; NX_O60663; -. DR OpenTargets; ENSG00000136944; -. DR Orphanet; 495818; 9q33.3q34.11 microdeletion syndrome. DR Orphanet; 2614; Nail-patella syndrome. DR Orphanet; 2613; Nail-patella-like renal disease. DR PharmGKB; PA30417; -. DR VEuPathDB; HostDB:ENSG00000136944; -. DR eggNOG; KOG0490; Eukaryota. DR GeneTree; ENSGT00940000157955; -. DR InParanoid; O60663; -. DR OMA; CYLRERK; -. DR OrthoDB; 932158at2759; -. DR TreeFam; TF315442; -. DR PathwayCommons; O60663; -. DR SignaLink; O60663; -. DR SIGNOR; O60663; -. DR BioGRID-ORCS; 4010; 15 hits in 1173 CRISPR screens. DR ChiTaRS; LMX1B; human. DR GeneWiki; LMX1B; -. DR GenomeRNAi; 4010; -. DR Pharos; O60663; Tbio. DR PRO; PR:O60663; -. DR Proteomes; UP000005640; Chromosome 9. DR RNAct; O60663; Protein. DR Bgee; ENSG00000136944; Expressed in sural nerve and 50 other cell types or tissues. DR GO; GO:0000785; C:chromatin; ISA:NTNU_SB. DR GO; GO:0005634; C:nucleus; IDA:UniProtKB. DR GO; GO:0003700; F:DNA-binding transcription factor activity; IDA:UniProtKB. DR GO; GO:0000981; F:DNA-binding transcription factor activity, RNA polymerase II-specific; ISS:ParkinsonsUK-UCL. DR GO; GO:0046872; F:metal ion binding; IEA:UniProtKB-KW. DR GO; GO:0000977; F:RNA polymerase II transcription regulatory region sequence-specific DNA binding; ISS:ParkinsonsUK-UCL. DR GO; GO:1990837; F:sequence-specific double-stranded DNA binding; IDA:ARUK-UCL. DR GO; GO:0071542; P:dopaminergic neuron differentiation; ISS:ParkinsonsUK-UCL. DR GO; GO:0009953; P:dorsal/ventral pattern formation; ISS:UniProtKB. DR GO; GO:0030182; P:neuron differentiation; ISS:UniProtKB. DR GO; GO:0045944; P:positive regulation of transcription by RNA polymerase II; ISS:ParkinsonsUK-UCL. DR GO; GO:0006355; P:regulation of DNA-templated transcription; IDA:UniProtKB. DR GO; GO:0006357; P:regulation of transcription by RNA polymerase II; IBA:GO_Central. DR CDD; cd00086; homeodomain; 1. DR CDD; cd09371; LIM1_Lmx1b; 1. DR CDD; cd09378; LIM2_Lmx1a_Lmx1b; 1. DR Gene3D; 2.10.110.10; Cysteine Rich Protein; 2. DR Gene3D; 1.10.10.60; Homeodomain-like; 1. DR InterPro; IPR009057; Homeobox-like_sf. DR InterPro; IPR017970; Homeobox_CS. DR InterPro; IPR001356; Homeobox_dom. DR InterPro; IPR001781; Znf_LIM. DR PANTHER; PTHR24208:SF96; LIM HOMEOBOX TRANSCRIPTION FACTOR 1-BETA; 1. DR PANTHER; PTHR24208; LIM/HOMEOBOX PROTEIN LHX; 1. DR Pfam; PF00046; Homeodomain; 1. DR Pfam; PF00412; LIM; 2. DR SMART; SM00389; HOX; 1. DR SMART; SM00132; LIM; 2. DR SUPFAM; SSF57716; Glucocorticoid receptor-like (DNA-binding domain); 2. DR SUPFAM; SSF46689; Homeodomain-like; 1. DR PROSITE; PS00027; HOMEOBOX_1; 1. DR PROSITE; PS50071; HOMEOBOX_2; 1. DR PROSITE; PS00478; LIM_DOMAIN_1; 2. DR PROSITE; PS50023; LIM_DOMAIN_2; 2. DR Genevisible; O60663; HS. PE 1: Evidence at protein level; KW Activator; Alternative splicing; Developmental protein; Disease variant; KW DNA-binding; Homeobox; LIM domain; Metal-binding; Nucleus; KW Reference proteome; Repeat; Transcription; Transcription regulation; Zinc. FT CHAIN 1..402 FT /note="LIM homeobox transcription factor 1-beta" FT /id="PRO_0000075828" FT DOMAIN 56..106 FT /note="LIM zinc-binding 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125" FT DOMAIN 115..168 FT /note="LIM zinc-binding 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00125" FT DNA_BIND 219..278 FT /note="Homeobox" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00108" FT REGION 176..229 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT REGION 326..346 FT /note="Disordered" FT /evidence="ECO:0000256|SAM:MobiDB-lite" FT VAR_SEQ 293 FT /note="L -> LGQGEPGPGQGL (in isoform 3)" FT /evidence="ECO:0000305" FT /id="VSP_046472" FT VAR_SEQ 345..351 FT /note="Missing (in isoform 2 and isoform 3)" FT /evidence="ECO:0000303|PubMed:15489334, FT ECO:0000303|PubMed:9590287" FT /id="VSP_003113" FT VARIANT 59 FT /note="C -> R (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015201" FT VARIANT 59 FT /note="C -> S (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015202" FT VARIANT 75 FT /note="S -> F (in dbSNP:rs2235058)" FT /id="VAR_047755" FT VARIANT 77 FT /note="H -> N (in NPS)" FT /evidence="ECO:0000269|PubMed:11668639" FT /id="VAR_015190" FT VARIANT 77 FT /note="H -> Q (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015203" FT VARIANT 77 FT /note="H -> Y (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015204" FT VARIANT 80 FT /note="C -> R (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015205" FT VARIANT 81 FT /note="L -> W (in NPS)" FT /evidence="ECO:0000269|PubMed:11668639" FT /id="VAR_015191" FT VARIANT 83 FT /note="C -> F (in NPS)" FT /evidence="ECO:0000269|PubMed:11668639" FT /id="VAR_015192" FT VARIANT 83 FT /note="C -> G (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015206" FT VARIANT 83 FT /note="C -> W (in NPS)" FT /evidence="ECO:0000269|PubMed:11668639" FT /id="VAR_015193" FT VARIANT 83 FT /note="C -> Y (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015207" FT VARIANT 86 FT /note="C -> R (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015208" FT VARIANT 103 FT /note="C -> W (in NPS)" FT /evidence="ECO:0000269|PubMed:11668639" FT /id="VAR_015194" FT VARIANT 106 FT /note="D -> G (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015209" FT VARIANT 118 FT /note="C -> F (in NPS; dbSNP:rs121909488)" FT /evidence="ECO:0000269|PubMed:9618165" FT /id="VAR_004198" FT VARIANT 118 FT /note="C -> Y (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942, FT ECO:0000269|PubMed:11668639" FT /id="VAR_015195" FT VARIANT 137 FT /note="H -> Y (in NPS)" FT /evidence="ECO:0000269|PubMed:11668639" FT /id="VAR_015196" FT VARIANT 140 FT /note="C -> Y (in NPS)" FT /evidence="ECO:0000269|PubMed:11668639" FT /id="VAR_015197" FT VARIANT 143 FT /note="C -> S (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015210" FT VARIANT 146 FT /note="C -> F (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015211" FT VARIANT 146 FT /note="C -> Y (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015212" FT VARIANT 165 FT /note="C -> W (in NPS)" FT /evidence="ECO:0000269|PubMed:9837817" FT /id="VAR_004199" FT VARIANT 223 FT /note="R -> Q (in NPS; dbSNP:rs121909491)" FT /evidence="ECO:0000269|PubMed:11668639, FT ECO:0000269|PubMed:9837817" FT /id="VAR_004200" FT VARIANT 236 FT /note="A -> P (in NPS; dbSNP:rs1588307140)" FT /evidence="ECO:0000269|PubMed:11668639, FT ECO:0000269|PubMed:9837817" FT /id="VAR_004201" FT VARIANT 241 FT /note="S -> P (in NPS)" FT /evidence="ECO:0000269|PubMed:9837817" FT /id="VAR_004202" FT VARIANT 246 FT /note="R -> P (in FSGS10; dbSNP:rs1191455921)" FT /evidence="ECO:0000269|PubMed:23687361" FT /id="VAR_085231" FT VARIANT 246 FT /note="R -> Q (in FSGS10; decreased transcriptional FT activity; dbSNP:rs1191455921)" FT /evidence="ECO:0000269|PubMed:23687361, FT ECO:0000269|PubMed:24042019, ECO:0000269|PubMed:26560070, FT ECO:0000269|PubMed:28059119, ECO:0000269|PubMed:32356190, FT ECO:0000269|PubMed:32791958" FT /id="VAR_085232" FT VARIANT 249 FT /note="R -> P (in NPS; dbSNP:rs1056252582)" FT /evidence="ECO:0000269|PubMed:9837817" FT /id="VAR_004203" FT VARIANT 252 FT /note="L -> P (in NPS)" FT /evidence="ECO:0000269|PubMed:10571942" FT /id="VAR_015213" FT VARIANT 253 FT /note="A -> V (in NPS)" FT /evidence="ECO:0000269|PubMed:9837817" FT /id="VAR_004204" FT VARIANT 266 FT /note="W -> C (in NPS)" FT /evidence="ECO:0000269|PubMed:11668639" FT /id="VAR_015198" FT VARIANT 269 FT /note="N -> K (in NPS; dbSNP:rs121909486)" FT /evidence="ECO:0000269|PubMed:11668639, FT ECO:0000269|PubMed:9590287, ECO:0000269|PubMed:9837817" FT /id="VAR_004205" FT MUTAGEN 265 FT /note="V->L: Loss of transcriptional activity." FT /evidence="ECO:0000269|PubMed:24042019" SQ SEQUENCE 402 AA; 44917 MW; E59FC36C39C7C9A3 CRC64; MDIATGPESL ERCFPRGQTD CAKMLDGIKM EEHALRPGPA TLGVLLGSDC PHPAVCEGCQ RPISDRFLMR VNESSWHEEC LQCAACQQAL TTSCYFRDRK LYCKQDYQQL FAAKCSGCME KIAPTEFVMR ALECVYHLGC FCCCVCERQL RKGDEFVLKE GQLLCKGDYE KEKDLLSSVS PDESDSVKSE DEDGDMKPAK GQGSQSKGSG DDGKDPRRPK RPRTILTTQQ RRAFKASFEV SSKPCRKVRE TLAAETGLSV RVVQVWFQNQ RAKMKKLARR HQQQQEQQNS QRLGQEVLSS RMEGMMASYT PLAPPQQQIV AMEQSPYGSS DPFQQGLTPP QMPGDHMNPY GNDSIFHDID SDTSLTSLSD CFLGSSDVGS LQARVGNPID RLYSMQSSYF AS //