MUC20_HUMAN
ID MUC20_HUMAN Reviewed; 709 AA.
AC Q8N307; Q6UX97; Q76I83; Q76I85; Q86ST8; Q8NBY6; Q96KA1; Q9P2I8;
DT 05-FEB-2008, integrated into UniProtKB/Swiss-Prot.
DT 11-JAN-2011, sequence version 3.
DT 03-AUG-2022, entry version 134.
DE RecName: Full=Mucin-20;
DE Short=MUC-20;
DE Flags: Precursor;
GN Name=MUC20; Synonyms=KIAA1359; ORFNames=UNQ2782/PRO7170;
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 / MRNA] (ISOFORMS 1 AND 2), VARIANTS
RP 184-HIS--LEU-354 DEL; 241-HIS--LEU-354 DEL AND ILE-442, POLYMORPHISM,
RP SUBCELLULAR LOCATION, AND TISSUE SPECIFICITY.
RC TISSUE=Kidney;
RX PubMed=14565953; DOI=10.1074/jbc.m304558200;
RA Higuchi T., Orita T., Nakanishi S., Katsuya K., Watanabe H., Yamasaki Y.,
RA Waga I., Nanayama T., Yamamoto Y., Munger W., Sun H.-W., Falk R.J.,
RA Jennette J.C., Alcorta D.A., Li H., Yamamoto T., Saito Y., Nakamura M.;
RT "Molecular cloning, genomic structure, and expression analysis of MUC20, a
RT novel mucin protein, up-regulated in injured kidney.";
RL J. Biol. Chem. 279:1968-1979(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP 184-HIS--LEU-354 DEL AND ILE-442.
RX PubMed=12975309; DOI=10.1101/gr.1293003;
RA Clark H.F., Gurney A.L., Abaya E., Baker K., Baldwin D.T., Brush J.,
RA Chen J., Chow B., Chui C., Crowley C., Currell B., Deuel B., Dowd P.,
RA Eaton D., Foster J.S., Grimaldi C., Gu Q., Hass P.E., Heldens S., Huang A.,
RA Kim H.S., Klimowski L., Jin Y., Johnson S., Lee J., Lewis L., Liao D.,
RA Mark M.R., Robbie E., Sanchez C., Schoenfeld J., Seshagiri S., Simmons L.,
RA Singh J., Smith V., Stinson J., Vagts A., Vandlen R.L., Watanabe C.,
RA Wieand D., Woods K., Xie M.-H., Yansura D.G., Yi S., Yu G., Yuan J.,
RA Zhang M., Zhang Z., Goddard A.D., Wood W.I., Godowski P.J., Gray A.M.;
RT "The secreted protein discovery initiative (SPDI), a large-scale effort to
RT identify novel human secreted and transmembrane proteins: a bioinformatics
RT assessment.";
RL Genome Res. 13:2265-2270(2003).
RN [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP 184-HIS--LEU-354 DEL; ILE-442 AND 483-THR--THR-533 DEL.
RC TISSUE=Embryo, and Placenta;
RX PubMed=14702039; DOI=10.1038/ng1285;
RA Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R.,
RA Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H.,
RA Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.,
RA Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K.,
RA Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H.,
RA Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M.,
RA Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K.,
RA Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T.,
RA Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M.,
RA Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S.,
RA Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H.,
RA Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K.,
RA Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N.,
RA Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S.,
RA Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O.,
RA Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H.,
RA Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B.,
RA Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y.,
RA Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K.,
RA Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T.,
RA Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T.,
RA Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y.,
RA Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H.,
RA Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y.,
RA Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H.,
RA Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O.,
RA Isogai T., Sugano S.;
RT "Complete sequencing and characterization of 21,243 full-length human
RT cDNAs.";
RL Nat. Genet. 36:40-45(2004).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=16641997; DOI=10.1038/nature04728;
RA Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J.,
RA Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P.,
RA Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J., Jackson A.,
RA Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L.,
RA Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G.,
RA Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W.,
RA Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M.,
RA Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P.,
RA Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H.,
RA Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J.,
RA Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W.,
RA Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B.,
RA Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O.,
RA Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B.,
RA Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H.,
RA Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J.,
RA Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X.,
RA Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R.,
RA Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.;
RT "The DNA sequence, annotation and analysis of human chromosome 3.";
RL Nature 440:1194-1198(2006).
RN [5]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS
RP 184-HIS--LEU-354 DEL; 203-HIS--LEU-354; DEL ILE-442 AND LEU-590.
RC TISSUE=Brain, and Colon;
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 [6]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 26-638 (ISOFORM 1), AND VARIANT
RP 241-HIS--LEU-354 DEL.
RC TISSUE=Brain;
RX PubMed=10718198; DOI=10.1093/dnares/7.1.65;
RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.;
RT "Prediction of the coding sequences of unidentified human genes. XVI. The
RT complete sequences of 150 new cDNA clones from brain which code for large
RT proteins in vitro.";
RL DNA Res. 7:65-73(2000).
RN [7]
RP FUNCTION, AND INTERACTION WITH MET.
RX PubMed=15314156; DOI=10.1128/mcb.24.17.7456-7468.2004;
RA Higuchi T., Orita T., Katsuya K., Yamasaki Y., Akiyama K., Li H.,
RA Yamamoto T., Saito Y., Nakamura M.;
RT "MUC20 suppresses the hepatocyte growth factor-induced Grb2-Ras pathway by
RT binding to a multifunctional docking site of met.";
RL Mol. Cell. Biol. 24:7456-7468(2004).
RN [8]
RP TANDEM REPEATS POLYMORPHISM.
RX PubMed=16508246; DOI=10.1159/000091785;
RA Li G., Zhang H., Lv J., Hou P., Wang H.;
RT "Tandem repeats polymorphism of MUC20 is an independent factor for the
RT progression of immunoglobulin A nephropathy.";
RL Am. J. Nephrol. 26:43-49(2006).
RN [9]
RP TISSUE SPECIFICITY.
RX PubMed=16997931; DOI=10.1093/humrep/del164;
RA Russo C.L., Spurr-Michaud S., Tisdale A., Pudney J., Anderson D.,
RA Gipson I.K.;
RT "Mucin gene expression in human male urogenital tract epithelia.";
RL Hum. Reprod. 21:2783-2793(2006).
CC -!- FUNCTION: May regulate MET signaling cascade. Seems to decrease
CC hepatocyte growth factor (HGF)-induced transient MAPK activation.
CC Blocks GRB2 recruitment to MET thus suppressing the GRB2-RAS pathway.
CC Inhibits HGF-induced proliferation of MMP1 and MMP9 expression.
CC {ECO:0000269|PubMed:15314156}.
CC -!- SUBUNIT: Interacts with MET; oligomerization increases affinity for
CC MET. {ECO:0000269|PubMed:15314156}.
CC -!- SUBCELLULAR LOCATION: Secreted {ECO:0000305}. Apical cell membrane
CC {ECO:0000269|PubMed:14565953}. Basolateral cell membrane
CC {ECO:0000269|PubMed:14565953}. Cell projection, microvillus membrane
CC {ECO:0000269|PubMed:14565953}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=2;
CC Name=1; Synonyms=hMUC20-L;
CC IsoId=Q8N307-1; Sequence=Displayed;
CC Name=2; Synonyms=hMUC20-S;
CC IsoId=Q8N307-3; Sequence=VSP_030980;
CC -!- TISSUE SPECIFICITY: Highly expressed in kidney, moderately in placenta,
CC lung, prostate, liver, and digestive system. In the kidney, localized
CC in the proximal tubules but not in the glomerulus or distal tubules.
CC Detected in most of the male urogenital tract epithelia, with the
CC exception of epididymis. {ECO:0000269|PubMed:14565953,
CC ECO:0000269|PubMed:16997931}.
CC -!- POLYMORPHISM: The region encoding the tandem repeats is highly
CC polymorphic. Divergence of the number of tandem repeats was seen in
CC different cDNA libraries.
CC -!- SEQUENCE CAUTION:
CC Sequence=AAQ88814.1; Type=Frameshift; Evidence={ECO:0000305};
CC Sequence=BAA92597.1; Type=Miscellaneous discrepancy; Note=Dubious isoform. Probable cloning artifact.; Evidence={ECO:0000305};
CC -!- WEB RESOURCE: Name=Mucin database;
CC URL="http://www.medkem.gu.se/mucinbiology/databases/";
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DR EMBL; AB098731; BAD06718.1; -; mRNA.
DR EMBL; AB098733; BAD06720.1; -; Genomic_DNA.
DR EMBL; AY358449; AAQ88814.1; ALT_FRAME; mRNA.
DR EMBL; AK027314; BAB55035.1; -; mRNA.
DR EMBL; AK075138; BAC11428.1; -; mRNA.
DR EMBL; AC069513; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; BC029267; AAH29267.1; -; mRNA.
DR EMBL; BC044243; AAH44243.1; -; mRNA.
DR EMBL; AB037780; BAA92597.1; ALT_SEQ; mRNA.
DR CCDS; CCDS63877.1; -. [Q8N307-1]
DR RefSeq; NP_001269435.1; NM_001282506.1. [Q8N307-1]
DR RefSeq; NP_001278762.1; NM_001291833.1.
DR RefSeq; NP_065841.1; NM_020790.1.
DR RefSeq; NP_689886.3; NM_152673.3.
DR AlphaFoldDB; Q8N307; -.
DR BioGRID; 128360; 49.
DR IntAct; Q8N307; 23.
DR STRING; 9606.ENSP00000414350; -.
DR GlyGen; Q8N307; 4 sites, 1 O-linked glycan (1 site).
DR iPTMnet; Q8N307; -.
DR PhosphoSitePlus; Q8N307; -.
DR BioMuta; MUC20; -.
DR DMDM; 317373415; -.
DR jPOST; Q8N307; -.
DR MassIVE; Q8N307; -.
DR PaxDb; Q8N307; -.
DR PeptideAtlas; Q8N307; -.
DR PRIDE; Q8N307; -.
DR ProteomicsDB; 71749; -. [Q8N307-1]
DR ProteomicsDB; 71750; -. [Q8N307-3]
DR Antibodypedia; 35139; 211 antibodies from 24 providers.
DR DNASU; 200958; -.
DR Ensembl; ENST00000445522.6; ENSP00000405629.2; ENSG00000176945.18. [Q8N307-3]
DR Ensembl; ENST00000447234.7; ENSP00000414350.2; ENSG00000176945.18. [Q8N307-1]
DR Ensembl; ENST00000610415.4; ENSP00000479947.1; ENSG00000278114.4. [Q8N307-1]
DR Ensembl; ENST00000615394.4; ENSP00000483878.1; ENSG00000276583.4. [Q8N307-1]
DR Ensembl; ENST00000620530.4; ENSP00000479182.1; ENSG00000275501.4. [Q8N307-1]
DR Ensembl; ENST00000625274.2; ENSP00000485837.1; ENSG00000278114.4. [Q8N307-3]
DR Ensembl; ENST00000627739.2; ENSP00000485855.1; ENSG00000276583.4. [Q8N307-3]
DR Ensembl; ENST00000630334.2; ENSP00000485921.1; ENSG00000275501.4. [Q8N307-3]
DR GeneID; 200958; -.
DR KEGG; hsa:200958; -.
DR MANE-Select; ENST00000447234.7; ENSP00000414350.2; NM_001282506.2; NP_001269435.1.
DR UCSC; uc032soi.2; human. [Q8N307-1]
DR CTD; 200958; -.
DR DisGeNET; 200958; -.
DR GeneCards; MUC20; -.
DR HGNC; HGNC:23282; MUC20.
DR HPA; ENSG00000176945; Tissue enhanced (esophagus, kidney).
DR MIM; 610360; gene.
DR neXtProt; NX_Q8N307; -.
DR OpenTargets; ENSG00000176945; -.
DR PharmGKB; PA134939730; -.
DR VEuPathDB; HostDB:ENSG00000176945; -.
DR eggNOG; ENOG502SVUK; Eukaryota.
DR GeneTree; ENSGT00730000111453; -.
DR InParanoid; Q8N307; -.
DR OMA; HIPTEGM; -.
DR OrthoDB; 878577at2759; -.
DR PhylomeDB; Q8N307; -.
DR TreeFam; TF338458; -.
DR PathwayCommons; Q8N307; -.
DR Reactome; R-HSA-5083625; Defective GALNT3 causes HFTC.
DR Reactome; R-HSA-5083632; Defective C1GALT1C1 causes TNPS.
DR Reactome; R-HSA-5083636; Defective GALNT12 causes CRCS1.
DR Reactome; R-HSA-5621480; Dectin-2 family.
DR Reactome; R-HSA-8851805; MET activates RAS signaling.
DR Reactome; R-HSA-913709; O-linked glycosylation of mucins.
DR Reactome; R-HSA-977068; Termination of O-glycan biosynthesis.
DR SignaLink; Q8N307; -.
DR BioGRID-ORCS; 200958; 54 hits in 1026 CRISPR screens.
DR ChiTaRS; MUC20; human.
DR GeneWiki; MUC20; -.
DR GenomeRNAi; 200958; -.
DR Pharos; Q8N307; Tbio.
DR PRO; PR:Q8N307; -.
DR Proteomes; UP000005640; Chromosome 3.
DR RNAct; Q8N307; protein.
DR Bgee; ENSG00000176945; Expressed in right uterine tube and 115 other tissues.
DR ExpressionAtlas; Q8N307; baseline and differential.
DR Genevisible; Q8N307; HS.
DR GO; GO:0016324; C:apical plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0009925; C:basal plasma membrane; IDA:MGI.
DR GO; GO:0016323; C:basolateral plasma membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005576; C:extracellular region; IEA:UniProtKB-SubCell.
DR GO; GO:0005796; C:Golgi lumen; TAS:Reactome.
DR GO; GO:0031528; C:microvillus membrane; IEA:UniProtKB-SubCell.
DR GO; GO:0005886; C:plasma membrane; TAS:Reactome.
DR GO; GO:0042802; F:identical protein binding; IPI:MGI.
DR GO; GO:0048012; P:hepatocyte growth factor receptor signaling pathway; IBA:GO_Central.
DR InterPro; IPR034551; MUC20.
DR PANTHER; PTHR37358; PTHR37358; 2.
PE 1: Evidence at protein level;
KW Alternative splicing; Cell membrane; Cell projection; Glycoprotein;
KW Membrane; Reference proteome; Repeat; Secreted; Signal.
FT SIGNAL 1..25
FT /evidence="ECO:0000255"
FT CHAIN 26..709
FT /note="Mucin-20"
FT /id="PRO_0000317469"
FT REPEAT 173..192
FT /note="1"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 193..211
FT /note="2"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 212..230
FT /note="3"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 231..249
FT /note="4"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 250..268
FT /note="5"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 269..287
FT /note="6"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 288..306
FT /note="7"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 307..325
FT /note="8"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 326..344
FT /note="9"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 345..363
FT /note="10"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 364..382
FT /note="11"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REPEAT 383..400
FT /note="12; approximate"
FT /evidence="ECO:0000269|PubMed:16508246"
FT REGION 57..92
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 170..403
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 173..400
FT /note="12 X 20 AA approximate tandem repeats of S-S-E-S-S-
FT A-S-S-D-S-P-H-P-V-I-T-P-S-R-A"
FT REGION 434..515
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 450..656
FT /note="Involved in oligomerization"
FT REGION 583..657
FT /note="Disordered"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT REGION 657..709
FT /note="Interaction with MET"
FT /evidence="ECO:0000269|PubMed:15314156"
FT COMPBIAS 57..71
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 434..461
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 475..515
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT COMPBIAS 609..655
FT /note="Polar residues"
FT /evidence="ECO:0000256|SAM:MobiDB-lite"
FT CARBOHYD 423
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 616
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT CARBOHYD 622
FT /note="N-linked (GlcNAc...) asparagine"
FT /evidence="ECO:0000255"
FT VAR_SEQ 1..35
FT /note="Missing (in isoform 2)"
FT /evidence="ECO:0000303|PubMed:14565953"
FT /id="VSP_030980"
FT VARIANT 3
FT /note="C -> S (in dbSNP:rs7627924)"
FT /id="VAR_038536"
FT VARIANT 18
FT /note="V -> G (in dbSNP:rs1811139)"
FT /id="VAR_038537"
FT VARIANT 130..376
FT /note="Missing"
FT /id="VAR_054139"
FT VARIANT 184..354
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:14565953, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_054140"
FT VARIANT 203..354
FT /note="Missing"
FT /id="VAR_054141"
FT VARIANT 241..354
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:10718198,
FT ECO:0000269|PubMed:14565953"
FT /id="VAR_054142"
FT VARIANT 442
FT /note="T -> I (in dbSNP:rs2550232)"
FT /evidence="ECO:0000269|PubMed:12975309,
FT ECO:0000269|PubMed:14565953, ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15489334"
FT /id="VAR_038538"
FT VARIANT 483..533
FT /note="Missing"
FT /evidence="ECO:0000269|PubMed:14702039"
FT /id="VAR_054143"
FT VARIANT 514
FT /note="G -> R (in dbSNP:rs3828410)"
FT /id="VAR_056641"
FT VARIANT 590
FT /note="P -> L (in dbSNP:rs3828408)"
FT /evidence="ECO:0000269|PubMed:15489334"
FT /id="VAR_038539"
FT VARIANT 666
FT /note="R -> W (in dbSNP:rs11923495)"
FT /id="VAR_038540"
FT VARIANT 671
FT /note="S -> C (in dbSNP:rs3762739)"
FT /id="VAR_038541"
FT CONFLICT 75
FT /note="I -> V (in Ref. 5; AAH29267)"
FT /evidence="ECO:0000305"
FT CONFLICT 136
FT /note="R -> E (in Ref. 1; BAD06718/BAD06720, 2; AAQ88814,
FT 3; BAB55035 and 5; AAH29267/AAH44243)"
FT /evidence="ECO:0000305"
FT CONFLICT 182
FT /note="S -> G (in Ref. 1; BAD06718/BAD06720, 2; AAQ88814,
FT 3; BAB55035 and 5; AAH29267/AAH44243)"
FT /evidence="ECO:0000305"
FT CONFLICT 221
FT /note="P -> L (in Ref. 6; BAA92597)"
FT /evidence="ECO:0000305"
FT CONFLICT 407
FT /note="T -> A (in Ref. 3; BAB55035)"
FT /evidence="ECO:0000305"
FT CONFLICT 433
FT /note="T -> A (in Ref. 3; BAC11428)"
FT /evidence="ECO:0000305"
FT CONFLICT 444
FT /note="L -> P (in Ref. 5; AAH29267)"
FT /evidence="ECO:0000305"
FT CONFLICT 493
FT /note="D -> H (in Ref. 1; BAD06718/BAD06720, 2; AAQ88814,
FT 3; BAC11428 and 5; AAH44243)"
FT /evidence="ECO:0000305"
FT CONFLICT 496
FT /note="V -> I (in Ref. 5; AAH29267)"
FT /evidence="ECO:0000305"
FT CONFLICT 505..506
FT /note="AT -> TI (in Ref. 5; AAH29267)"
FT /evidence="ECO:0000305"
FT CONFLICT 523..527
FT /note="VTVSR -> ATG (in Ref. 5; AAH29267)"
FT /evidence="ECO:0000305"
FT CONFLICT 592
FT /note="M -> T (in Ref. 5; AAH29267)"
FT /evidence="ECO:0000305"
FT CONFLICT 654
FT /note="V -> M (in Ref. 5; AAH29267)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 709 AA; 71982 MW; DD344A6014D39172 CRC64;
MGCLWGLALP LFFFCWEVGV SGSSAGPSTR RADTAMTTDD TEVPAMTLAP GHAALETQTL
SAETSSRAST PAGPIPEAET RGAKRISPAR ETRSFTKTSP NFMVLIATSV ETSAASGSPE
GAGMTTVQTI TGSDPREAIF DTLCTDDSSE EAKTLTMDIL TLAHTSTEAK GLSSESSASS
DSPHPVITPS RASESSASSD GPHPVITPSR ASESSASSDG PHPVITPSRA SESSASSDGP
HPVITPSRAS ESSASSDGPH PVITPSRASE SSASSDGPHP VITPSRASES SASSDGPHPV
ITPSRASESS ASSDGPHPVI TPSRASESSA SSDGPHPVIT PSRASESSAS SDGLHPVITP
SRASESSASS DGPHPVITPS RASESSASSD GPHPVITPSW SPGSDVTLLA EALVTVTNIE
VINCSITEIE TTTSSIPGAS DTDLIPTEGV KASSTSDPPA LPDSTEAKPH ITEVTASAET
LSTAGTTESA APDATVGTPL PTNSATEREV TAPGATTLSG ALVTVSRNPL EETSALSVET
PSYVKVSGAA PVSIEAGSAV GKTTSFAGSS ASSYSPSEAA LKNFTPSETP TMDIATKGPF
PTSRDPLPSV PPTTTNSSRG TNSTLAKITT SAKTTMKPPT ATPTTARTRP TTDVSAGENG
GFLLLRLSVA SPEDLTDPRV AERLMQQLHR ELHAHAPHFQ VSLLRVRRG
