ID   PIGQ_HUMAN              Reviewed;         760 AA.
AC   Q9BRB3; A2IDE1; D3DU52; O14927; Q96G00; Q96S22; Q9UJH4;
DT   23-APR-2003, integrated into UniProtKB/Swiss-Prot.
DT   23-JAN-2007, sequence version 3.
DT   24-JAN-2024, entry version 174.
DE   RecName: Full=Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q {ECO:0000305};
DE   AltName: Full=N-acetylglucosamyl transferase component GPI1;
DE   AltName: Full=Phosphatidylinositol-glycan biosynthesis class Q protein;
DE            Short=PIG-Q;
GN   Name=PIGQ {ECO:0000312|HGNC:HGNC:14135}; Synonyms=GPI1;
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 [MRNA] (ISOFORM 2).
RX   PubMed=9729469; DOI=10.1042/bj3340609;
RA   Tiede A., Schubert J., Nischan C., Jensen I., Westfall B., Taron C.H.,
RA   Orlean P., Schmidt R.E.;
RT   "Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol
RT   membrane anchor biosynthesis in yeast mutants.";
RL   Biochem. J. 334:609-616(1998).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2), INTERACTION WITH PIGA; PIGH AND
RP   PIGC, COMPONENT OF GPI-GNT COMPLEX, AND FUNCTION.
RX   PubMed=9463366; DOI=10.1093/emboj/17.4.877;
RA   Watanabe R., Inoue N., Westfall B., Taron C.H., Orlean P., Takeda J.,
RA   Kinoshita T.;
RT   "The first step of glycosylphosphatidylinositol biosynthesis is mediated by
RT   a complex of PIG-A, PIG-H, PIG-C and GPI1.";
RL   EMBO J. 17:877-885(1998).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT ALA-14.
RX   PubMed=11157797; DOI=10.1093/hmg/10.4.339;
RA   Daniels R.J., Peden J.F., Lloyd C., Horsley S.W., Clark K., Tufarelli C.,
RA   Kearney L., Buckle V.J., Doggett N.A., Flint J., Higgs D.R.;
RT   "Sequence, structure and pathology of the fully annotated terminal 2 Mb of
RT   the short arm of human chromosome 16.";
RL   Hum. Mol. Genet. 10:339-352(2001).
RN   [4]
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 (SEP-2005) to the EMBL/GenBank/DDBJ databases.
RN   [5]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=15616553; DOI=10.1038/nature03187;
RA   Martin J., Han C., Gordon L.A., Terry A., Prabhakar S., She X., Xie G.,
RA   Hellsten U., Chan Y.M., Altherr M., Couronne O., Aerts A., Bajorek E.,
RA   Black S., Blumer H., Branscomb E., Brown N.C., Bruno W.J., Buckingham J.M.,
RA   Callen D.F., Campbell C.S., Campbell M.L., Campbell E.W., Caoile C.,
RA   Challacombe J.F., Chasteen L.A., Chertkov O., Chi H.C., Christensen M.,
RA   Clark L.M., Cohn J.D., Denys M., Detter J.C., Dickson M.,
RA   Dimitrijevic-Bussod M., Escobar J., Fawcett J.J., Flowers D., Fotopulos D.,
RA   Glavina T., Gomez M., Gonzales E., Goodstein D., Goodwin L.A., Grady D.L.,
RA   Grigoriev I., Groza M., Hammon N., Hawkins T., Haydu L., Hildebrand C.E.,
RA   Huang W., Israni S., Jett J., Jewett P.B., Kadner K., Kimball H.,
RA   Kobayashi A., Krawczyk M.-C., Leyba T., Longmire J.L., Lopez F., Lou Y.,
RA   Lowry S., Ludeman T., Manohar C.F., Mark G.A., McMurray K.L., Meincke L.J.,
RA   Morgan J., Moyzis R.K., Mundt M.O., Munk A.C., Nandkeshwar R.D.,
RA   Pitluck S., Pollard M., Predki P., Parson-Quintana B., Ramirez L., Rash S.,
RA   Retterer J., Ricke D.O., Robinson D.L., Rodriguez A., Salamov A.,
RA   Saunders E.H., Scott D., Shough T., Stallings R.L., Stalvey M.,
RA   Sutherland R.D., Tapia R., Tesmer J.G., Thayer N., Thompson L.S., Tice H.,
RA   Torney D.C., Tran-Gyamfi M., Tsai M., Ulanovsky L.E., Ustaszewska A.,
RA   Vo N., White P.S., Williams A.L., Wills P.L., Wu J.-R., Wu K., Yang J.,
RA   DeJong P., Bruce D., Doggett N.A., Deaven L., Schmutz J., Grimwood J.,
RA   Richardson P., Rokhsar D.S., Eichler E.E., Gilna P., Lucas S.M.,
RA   Myers R.M., Rubin E.M., Pennacchio L.A.;
RT   "The sequence and analysis of duplication-rich human chromosome 16.";
RL   Nature 432:988-994(2004).
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3), AND VARIANT
RP   ALA-14.
RC   TISSUE=Melanoma, and Retinoblastoma;
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   [7]
RP   PROTEIN SEQUENCE OF 2-6.
RX   PubMed=10944123; DOI=10.1093/emboj/19.16.4402;
RA   Watanabe R., Murakami Y., Marmor M.D., Inoue N., Maeda Y., Hino J.,
RA   Kangawa K., Julius M., Kinoshita T.;
RT   "Initial enzyme for glycosylphosphatidylinositol biosynthesis requires PIG-
RT   P and is regulated by DPM2.";
RL   EMBO J. 19:4402-4411(2000).
RN   [8]
RP   COMPONENT OF GPI-GNT COMPLEX, AND FUNCTION.
RX   PubMed=16162815; DOI=10.1091/mbc.e05-08-0743;
RA   Murakami Y., Siripanyaphinyo U., Hong Y., Tashima Y., Maeda Y.,
RA   Kinoshita T.;
RT   "The initial enzyme for glycosylphosphatidylinositol biosynthesis requires
RT   PIG-Y, a seventh component.";
RL   Mol. Biol. Cell 16:5236-5246(2005).
RN   [9]
RP   INVOLVEMENT IN MCAHS4.
RX   PubMed=24463883; DOI=10.1093/hmg/ddu030;
RG   WGS500 Consortium;
RA   Martin H.C., Kim G.E., Pagnamenta A.T., Murakami Y., Carvill G.L.,
RA   Meyer E., Copley R.R., Rimmer A., Barcia G., Fleming M.R., Kronengold J.,
RA   Brown M.R., Hudspith K.A., Broxholme J., Kanapin A., Cazier J.B.,
RA   Kinoshita T., Nabbout R., Bentley D., McVean G., Heavin S., Zaiwalla Z.,
RA   McShane T., Mefford H.C., Shears D., Stewart H., Kurian M.A.,
RA   Scheffer I.E., Blair E., Donnelly P., Kaczmarek L.K., Taylor J.C.;
RT   "Clinical whole-genome sequencing in severe early-onset epilepsy reveals
RT   new genes and improves molecular diagnosis.";
RL   Hum. Mol. Genet. 23:3200-3211(2014).
RN   [10]
RP   INVOLVEMENT IN MCAHS4, AND VARIANT MCAHS4 207-ARG--LEU-760 DEL.
RX   PubMed=25558065; DOI=10.1016/j.celrep.2014.12.015;
RA   Alazami A.M., Patel N., Shamseldin H.E., Anazi S., Al-Dosari M.S.,
RA   Alzahrani F., Hijazi H., Alshammari M., Aldahmesh M.A., Salih M.A.,
RA   Faqeih E., Alhashem A., Bashiri F.A., Al-Owain M., Kentab A.Y., Sogaty S.,
RA   Al Tala S., Temsah M.H., Tulbah M., Aljelaify R.F., Alshahwan S.A.,
RA   Seidahmed M.Z., Alhadid A.A., Aldhalaan H., Alqallaf F., Kurdi W.,
RA   Alfadhel M., Babay Z., Alsogheer M., Kaya N., Al-Hassnan Z.N.,
RA   Abdel-Salam G.M., Al-Sannaa N., Al Mutairi F., El Khashab H.Y., Bohlega S.,
RA   Jia X., Nguyen H.C., Hammami R., Adly N., Mohamed J.Y., Abdulwahab F.,
RA   Ibrahim N., Naim E.A., Al-Younes B., Meyer B.F., Hashem M., Shaheen R.,
RA   Xiong Y., Abouelhoda M., Aldeeri A.A., Monies D.M., Alkuraya F.S.;
RT   "Accelerating novel candidate gene discovery in neurogenetic disorders via
RT   whole-exome sequencing of prescreened multiplex consanguineous families.";
RL   Cell Rep. 10:148-161(2015).
RN   [11]
RP   VARIANT MCAHS4 TYR-400 DEL.
RX   PubMed=27513193; DOI=10.1038/gim.2016.95;
RA   Farwell Hagman K.D., Shinde D.N., Mroske C., Smith E., Radtke K.,
RA   Shahmirzadi L., El-Khechen D., Powis Z., Chao E.C., Alcaraz W.A.,
RA   Helbig K.L., Sajan S.A., Rossi M., Lu H.M., Huether R., Li S., Wu S.,
RA   Nunes M.E., Tang S.;
RT   "Candidate-gene criteria for clinical reporting: diagnostic exome
RT   sequencing identifies altered candidate genes among 8% of patients with
RT   undiagnosed diseases.";
RL   Genet. Med. 19:224-235(2017).
RN   [12]
RP   ERRATUM OF PUBMED:27513193.
RX   PubMed=29388939; DOI=10.1038/gim.2017.263;
RA   Farwell Hagman K.D., Shinde D.N., Mroske C., Smith E., Radtke K.,
RA   Shahmirzadi L., El-Khechen D., Powis Z., Chao E.C., Alcaraz W.A.,
RA   Helbig K.L., Sajan S.A., Rossi M., Lu H.M., Huether R., Li S., Wu S.,
RA   Nunes M.E., Tang S.;
RL   Genet. Med. 20:1099-1102(2018).
RN   [13]
RP   VARIANT MCAHS4 TYR-400 DEL.
RX   PubMed=31148362; DOI=10.1002/ajmg.a.61185;
RA   Starr L.J., Spranger J.W., Rao V.K., Lutz R., Yetman A.T.;
RT   "PIGQ glycosylphosphatidylinositol-anchored protein deficiency:
RT   Characterizing the phenotype.";
RL   Am. J. Med. Genet. A 179:1270-1275(2019).
CC   -!- FUNCTION: Part of the glycosylphosphatidylinositol-N-
CC       acetylglucosaminyltransferase (GPI-GnT) complex that catalyzes the
CC       transfer of N-acetylglucosamine from UDP-N-acetylglucosamine to
CC       phosphatidylinositol and participates in the first step of GPI
CC       biosynthesis. {ECO:0000269|PubMed:16162815,
CC       ECO:0000269|PubMed:9463366}.
CC   -!- PATHWAY: Glycolipid biosynthesis; glycosylphosphatidylinositol-anchor
CC       biosynthesis. {ECO:0000269|PubMed:16162815,
CC       ECO:0000269|PubMed:9463366}.
CC   -!- SUBUNIT: Component of the glycosylphosphatidylinositol-N-
CC       acetylglucosaminyltransferase (GPI-GnT) complex composed at least by
CC       PIGA, PIGC, PIGH, PIGP, PIGQ, PIGY and DPM2 (PubMed:16162815,
CC       PubMed:9463366). Interacts with PIGA, PIGH and PIGC (PubMed:9463366).
CC       {ECO:0000269|PubMed:16162815, ECO:0000269|PubMed:9463366}.
CC   -!- INTERACTION:
CC       Q9BRB3; O94777: DPM2; NbExp=2; IntAct=EBI-2339260, EBI-9097061;
CC       Q9BRB3; P37287: PIGA; NbExp=5; IntAct=EBI-2339260, EBI-26643054;
CC       Q9BRB3; Q92535: PIGC; NbExp=4; IntAct=EBI-2339260, EBI-721918;
CC   -!- SUBCELLULAR LOCATION: Membrane {ECO:0000305}; Multi-pass membrane
CC       protein {ECO:0000305}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=3;
CC       Name=1;
CC         IsoId=Q9BRB3-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q9BRB3-2; Sequence=VSP_007281, VSP_007282;
CC       Name=3;
CC         IsoId=Q9BRB3-3; Sequence=VSP_007279, VSP_007280;
CC   -!- DISEASE: Multiple congenital anomalies-hypotonia-seizures syndrome 4
CC       (MCAHS4) [MIM:618548]: An autosomal recessive syndrome characterized by
CC       onset of refractory seizures in the first months of life. Additional
CC       clinical features include severe global developmental delay, dysmorphic
CC       facial features, and skeletal, renal and ophthalmic anomalies. At the
CC       cellular level, the disorder is caused by a defect in the synthesis of
CC       glycosylphosphatidylinositol (GPI). {ECO:0000269|PubMed:24463883,
CC       ECO:0000269|PubMed:25558065, ECO:0000269|PubMed:27513193,
CC       ECO:0000269|PubMed:31148362}. Note=The disease is caused by variants
CC       affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the PIGQ family. {ECO:0000305}.
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DR   EMBL; AF030177; AAC32661.1; -; mRNA.
DR   EMBL; AB003723; BAA24948.1; -; mRNA.
DR   EMBL; AE006464; AAK61235.1; -; Genomic_DNA.
DR   EMBL; Z98883; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471112; EAW85796.1; -; Genomic_DNA.
DR   EMBL; CH471112; EAW85797.1; -; Genomic_DNA.
DR   EMBL; CH471112; EAW85799.1; -; Genomic_DNA.
DR   EMBL; BC006377; AAH06377.1; -; mRNA.
DR   EMBL; BC010094; -; NOT_ANNOTATED_CDS; mRNA.
DR   CCDS; CCDS10411.1; -. [Q9BRB3-1]
DR   CCDS; CCDS10412.1; -. [Q9BRB3-2]
DR   RefSeq; NP_004195.2; NM_004204.3. [Q9BRB3-2]
DR   RefSeq; NP_683721.1; NM_148920.2. [Q9BRB3-1]
DR   AlphaFoldDB; Q9BRB3; -.
DR   BioGRID; 114545; 36.
DR   ComplexPortal; CPX-6502; Glycosylphosphatidylinositol-N-acetylglucosaminyltransferase complex.
DR   CORUM; Q9BRB3; -.
DR   IntAct; Q9BRB3; 20.
DR   MINT; Q9BRB3; -.
DR   STRING; 9606.ENSP00000026218; -.
DR   iPTMnet; Q9BRB3; -.
DR   PhosphoSitePlus; Q9BRB3; -.
DR   SwissPalm; Q9BRB3; -.
DR   BioMuta; PIGQ; -.
DR   DMDM; 30173119; -.
DR   EPD; Q9BRB3; -.
DR   jPOST; Q9BRB3; -.
DR   MassIVE; Q9BRB3; -.
DR   MaxQB; Q9BRB3; -.
DR   PaxDb; 9606-ENSP00000026218; -.
DR   PeptideAtlas; Q9BRB3; -.
DR   ProteomicsDB; 78753; -. [Q9BRB3-1]
DR   ProteomicsDB; 78754; -. [Q9BRB3-2]
DR   ProteomicsDB; 78755; -. [Q9BRB3-3]
DR   Antibodypedia; 22728; 94 antibodies from 22 providers.
DR   DNASU; 9091; -.
DR   Ensembl; ENST00000026218.9; ENSP00000026218.5; ENSG00000007541.17. [Q9BRB3-1]
DR   Ensembl; ENST00000321878.10; ENSP00000326674.6; ENSG00000007541.17. [Q9BRB3-2]
DR   Ensembl; ENST00000409527.6; ENSP00000386760.2; ENSG00000007541.17. [Q9BRB3-2]
DR   Ensembl; ENST00000470411.2; ENSP00000439650.1; ENSG00000007541.17. [Q9BRB3-3]
DR   GeneID; 9091; -.
DR   KEGG; hsa:9091; -.
DR   MANE-Select; ENST00000321878.10; ENSP00000326674.6; NM_004204.5; NP_004195.2. [Q9BRB3-2]
DR   UCSC; uc002chm.4; human. [Q9BRB3-1]
DR   AGR; HGNC:14135; -.
DR   CTD; 9091; -.
DR   DisGeNET; 9091; -.
DR   GeneCards; PIGQ; -.
DR   HGNC; HGNC:14135; PIGQ.
DR   HPA; ENSG00000007541; Low tissue specificity.
DR   MalaCards; PIGQ; -.
DR   MIM; 605754; gene.
DR   MIM; 618548; phenotype.
DR   neXtProt; NX_Q9BRB3; -.
DR   OpenTargets; ENSG00000007541; -.
DR   Orphanet; 1934; Early infantile epileptic encephalopathy.
DR   PharmGKB; PA33299; -.
DR   VEuPathDB; HostDB:ENSG00000007541; -.
DR   eggNOG; KOG1183; Eukaryota.
DR   GeneTree; ENSGT00390000004994; -.
DR   HOGENOM; CLU_021157_2_0_1; -.
DR   InParanoid; Q9BRB3; -.
DR   OMA; HKGDKQN; -.
DR   OrthoDB; 51470at2759; -.
DR   PhylomeDB; Q9BRB3; -.
DR   TreeFam; TF321258; -.
DR   BRENDA; 2.4.1.198; 2681.
DR   PathwayCommons; Q9BRB3; -.
DR   Reactome; R-HSA-162710; Synthesis of glycosylphosphatidylinositol (GPI). [Q9BRB3-2]
DR   SignaLink; Q9BRB3; -.
DR   UniPathway; UPA00196; -.
DR   BioGRID-ORCS; 9091; 27 hits in 1162 CRISPR screens.
DR   ChiTaRS; PIGQ; human.
DR   GeneWiki; PIGQ; -.
DR   GenomeRNAi; 9091; -.
DR   Pharos; Q9BRB3; Tbio.
DR   PRO; PR:Q9BRB3; -.
DR   Proteomes; UP000005640; Chromosome 16.
DR   RNAct; Q9BRB3; Protein.
DR   Bgee; ENSG00000007541; Expressed in right lobe of thyroid gland and 110 other cell types or tissues.
DR   ExpressionAtlas; Q9BRB3; baseline and differential.
DR   GO; GO:0005783; C:endoplasmic reticulum; IBA:GO_Central.
DR   GO; GO:0005789; C:endoplasmic reticulum membrane; IDA:ComplexPortal.
DR   GO; GO:0000506; C:glycosylphosphatidylinositol-N-acetylglucosaminyltransferase (GPI-GnT) complex; IDA:UniProtKB.
DR   GO; GO:0005975; P:carbohydrate metabolic process; TAS:ProtInc.
DR   GO; GO:0006506; P:GPI anchor biosynthetic process; IDA:UniProtKB.
DR   InterPro; IPR007720; PigQ/GPI1.
DR   PANTHER; PTHR21329:SF3; PHOSPHATIDYLINOSITOL N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT Q; 1.
DR   PANTHER; PTHR21329; PHOSPHATIDYLINOSITOL N-ACETYLGLUCOSAMINYLTRANSFERASE SUBUNIT Q-RELATED; 1.
DR   Pfam; PF05024; Gpi1; 1.
DR   Genevisible; Q9BRB3; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Direct protein sequencing; Disease variant; Epilepsy;
KW   GPI-anchor biosynthesis; Membrane; Reference proteome; Transmembrane;
KW   Transmembrane helix.
FT   INIT_MET        1
FT                   /note="Removed"
FT                   /evidence="ECO:0000269|PubMed:10944123"
FT   CHAIN           2..760
FT                   /note="Phosphatidylinositol N-acetylglucosaminyltransferase
FT                   subunit Q"
FT                   /id="PRO_0000215664"
FT   TRANSMEM        278..298
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        349..371
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        378..400
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        446..468
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        475..497
FT                   /note="Helical"
FT                   /evidence="ECO:0000255"
FT   REGION          696..748
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   VAR_SEQ         275..299
FT                   /note="KANTVASVLLDVALGLMLLSWLHGR -> CGPALVSAGLGACPLAPSPSPSA
FT                   PR (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_007279"
FT   VAR_SEQ         300..760
FT                   /note="Missing (in isoform 3)"
FT                   /evidence="ECO:0000303|PubMed:15489334"
FT                   /id="VSP_007280"
FT   VAR_SEQ         511..581
FT                   /note="DKPTALQPRGAHLPPPQLWLPPQALLGRPVPQAVPWGAHLPLEAERGQAGLR
FT                   ELLARLAPPHGHSQPSALP -> AGVKFRVLRHEAGRPLRLLMQINPLPYSRVVHTYRL
FT                   PSCGCHPKHSWGALCRKLFLGELIYPWRQRGDKQD (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:9463366,
FT                   ECO:0000303|PubMed:9729469"
FT                   /id="VSP_007281"
FT   VAR_SEQ         582..760
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|PubMed:9463366,
FT                   ECO:0000303|PubMed:9729469"
FT                   /id="VSP_007282"
FT   VARIANT         14
FT                   /note="T -> A (in dbSNP:rs2071979)"
FT                   /evidence="ECO:0000269|PubMed:11157797,
FT                   ECO:0000269|PubMed:15489334"
FT                   /id="VAR_015596"
FT   VARIANT         207..760
FT                   /note="Missing (in MCAHS4)"
FT                   /evidence="ECO:0000269|PubMed:25558065"
FT                   /id="VAR_083110"
FT   VARIANT         400
FT                   /note="Missing (in MCAHS4)"
FT                   /evidence="ECO:0000269|PubMed:27513193,
FT                   ECO:0000269|PubMed:31148362"
FT                   /id="VAR_083111"
FT   VARIANT         592
FT                   /note="C -> R (in dbSNP:rs1045277)"
FT                   /id="VAR_053579"
FT   VARIANT         668
FT                   /note="C -> R (in dbSNP:rs710924)"
FT                   /id="VAR_053580"
FT   VARIANT         668
FT                   /note="C -> Y (in dbSNP:rs710925)"
FT                   /id="VAR_053581"
SQ   SEQUENCE   760 AA;  84082 MW;  DBF900ADCE08DA98 CRC64;
     MVLKAFFPTC CVSTDSGLLV GRWVPEQSSA VVLAVLHFPF IPIQVKQLLA QVRQASQVGV
     AVLGTWCHCR QEPEESLGRF LESLGAVFPH EPWLRLCRER GGTFWSCEAT HRQAPTAPGA
     PGEDQVMLIF YDQRQVLLSQ LHLPTVLPDR QAGATTASTG GLAAVFDTVA RSEVLFRSDR
     FDEGPVRLSH WQSEGVEASI LAELARRASG PICLLLASLL SLVSAVSACR VFKLWPLSFL
     GSKLSTCEQL RHRLEHLTLI FSTRKAENPA QLMRKANTVA SVLLDVALGL MLLSWLHGRS
     RIGHLADALV PVADHVAEEL QHLLQWLMGA PAGLKMNRAL DQVLGRFFLY HIHLWISYIH
     LMSPFVEHIL WHVGLSACLG LTVALSLLSD IIALLTFHIY CFYVYGARLY CLKIHGLSSL
     WRLFRGKKWN VLRQRVDSCS YDLDQLFIGT LLFTILLFLL PTTALYYLVF TLLRLLVVAV
     QGLIHLLVDL INSLPLYSLG LRLCRPYRLA DKPTALQPRG AHLPPPQLWL PPQALLGRPV
     PQAVPWGAHL PLEAERGQAG LRELLARLAP PHGHSQPSAL PGWHQLSWRM SCALWTLLCA
     PEHGRPCYHT LGLEVIGSEQ MWGWPARLAA LHHWHCLPWD PLPTCCGHHG GEHSNPRCPE
     HCPMPTLCTQ VQRVRPPQQP QVEGWSPWGL PSGSALAVGV EGPCQDEPPS PRHPLAPSAE
     QHPASGGLKQ SLTPVPSGPG PSLPEPHGVY LRMFPGEVAL
//