ID SEM5B_HUMAN Reviewed; 1151 AA. AC Q9P283; A8K5U2; B7Z393; F8W9U8; Q6DD89; Q6UY12; Q9NW17; DT 10-OCT-2003, integrated into UniProtKB/Swiss-Prot. DT 04-NOV-2008, sequence version 4. DT 27-MAR-2024, entry version 183. DE RecName: Full=Semaphorin-5B; GN Name=SEMA5B; Synonyms=KIAA1445, SEMAG; ORFNames=UNQ5867/PRO34001; 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 [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS THR-220; RP ASP-840 AND GLY-1028. RC TISSUE=Brain; RX PubMed=10819331; DOI=10.1093/dnares/7.2.143; RA Nagase T., Kikuno R., Ishikawa K., Hirosawa M., Ohara O.; RT "Prediction of the coding sequences of unidentified human genes. XVII. The RT complete sequences of 100 new cDNA clones from brain which code for large RT proteins in vitro."; RL DNA Res. 7:143-150(2000). RN [2] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2). 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] (ISOFORMS 1 AND 4), NUCLEOTIDE RP SEQUENCE [LARGE SCALE MRNA] OF 935-1151 (ISOFORM 3), AND VARIANTS THR-220; RP THR-742; ASP-840 AND GLY-1028. RC TISSUE=Brain, and Hippocampus; 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 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 [6] RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), AND VARIANTS ASP-840 RP AND GLY-1028. RC TISSUE=Ovary; 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 VARIANTS [LARGE SCALE ANALYSIS] SER-42 AND MET-223. RX PubMed=16959974; DOI=10.1126/science.1133427; RA Sjoeblom T., Jones S., Wood L.D., Parsons D.W., Lin J., Barber T.D., RA Mandelker D., Leary R.J., Ptak J., Silliman N., Szabo S., Buckhaults P., RA Farrell C., Meeh P., Markowitz S.D., Willis J., Dawson D., Willson J.K.V., RA Gazdar A.F., Hartigan J., Wu L., Liu C., Parmigiani G., Park B.H., RA Bachman K.E., Papadopoulos N., Vogelstein B., Kinzler K.W., RA Velculescu V.E.; RT "The consensus coding sequences of human breast and colorectal cancers."; RL Science 314:268-274(2006). CC -!- FUNCTION: May act as a positive axonal guidance cue. CC {ECO:0000250|UniProtKB:Q60519}. CC -!- SUBCELLULAR LOCATION: Membrane {ECO:0000255}; Single-pass type III CC membrane protein {ECO:0000255}. CC -!- ALTERNATIVE PRODUCTS: CC Event=Alternative splicing; Named isoforms=4; CC Name=1; CC IsoId=Q9P283-1; Sequence=Displayed; CC Name=2; CC IsoId=Q9P283-2; Sequence=VSP_029462, VSP_029464, VSP_029465; CC Name=3; CC IsoId=Q9P283-3; Sequence=VSP_029463; CC Name=4; CC IsoId=Q9P283-4; Sequence=VSP_044748; CC -!- SIMILARITY: Belongs to the semaphorin family. {ECO:0000305}. CC -!- CAUTION: It is uncertain whether Met-1 or Met-59 is the initiator. CC {ECO:0000305}. CC -!- SEQUENCE CAUTION: CC Sequence=BAA91570.1; Type=Erroneous initiation; Evidence={ECO:0000305}; CC Sequence=BAA95969.1; Type=Erroneous initiation; 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; AB040878; BAA95969.1; ALT_INIT; mRNA. DR EMBL; AY358124; AAQ88491.1; -; mRNA. DR EMBL; AK001234; BAA91570.1; ALT_INIT; mRNA. DR EMBL; AK291407; BAF84096.1; -; mRNA. DR EMBL; AK295619; BAH12129.1; -; mRNA. DR EMBL; AC078794; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC083797; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; AC109130; -; NOT_ANNOTATED_CDS; Genomic_DNA. DR EMBL; CH471052; EAW79457.1; -; Genomic_DNA. DR EMBL; BC077726; AAH77726.1; -; mRNA. DR CCDS; CCDS35491.1; -. [Q9P283-1] DR CCDS; CCDS58848.1; -. [Q9P283-4] DR RefSeq; NP_001026872.2; NM_001031702.3. [Q9P283-1] DR RefSeq; NP_001243275.1; NM_001256346.1. [Q9P283-1] DR RefSeq; NP_001243276.1; NM_001256347.1. [Q9P283-4] DR AlphaFoldDB; Q9P283; -. DR SMR; Q9P283; -. DR BioGRID; 119953; 10. DR IntAct; Q9P283; 8. DR MINT; Q9P283; -. DR STRING; 9606.ENSP00000389588; -. DR GlyCosmos; Q9P283; 5 sites, No reported glycans. DR GlyGen; Q9P283; 5 sites. DR iPTMnet; Q9P283; -. DR PhosphoSitePlus; Q9P283; -. DR BioMuta; SEMA5B; -. DR DMDM; 212276522; -. DR EPD; Q9P283; -. DR jPOST; Q9P283; -. DR MassIVE; Q9P283; -. DR MaxQB; Q9P283; -. DR PaxDb; 9606-ENSP00000389588; -. DR PeptideAtlas; Q9P283; -. DR ProteomicsDB; 30384; -. DR ProteomicsDB; 83748; -. [Q9P283-1] DR ProteomicsDB; 83749; -. [Q9P283-2] DR ProteomicsDB; 83750; -. [Q9P283-3] DR Antibodypedia; 2250; 143 antibodies from 14 providers. DR DNASU; 54437; -. DR Ensembl; ENST00000357599.8; ENSP00000350215.3; ENSG00000082684.16. [Q9P283-1] DR Ensembl; ENST00000451055.6; ENSP00000389588.2; ENSG00000082684.16. [Q9P283-4] DR Ensembl; ENST00000616742.4; ENSP00000479602.1; ENSG00000082684.16. [Q9P283-1] DR GeneID; 54437; -. DR KEGG; hsa:54437; -. DR MANE-Select; ENST00000357599.8; ENSP00000350215.3; NM_001031702.4; NP_001026872.2. DR UCSC; uc003efz.3; human. [Q9P283-1] DR AGR; HGNC:10737; -. DR CTD; 54437; -. DR DisGeNET; 54437; -. DR GeneCards; SEMA5B; -. DR HGNC; HGNC:10737; SEMA5B. DR HPA; ENSG00000082684; Tissue enhanced (brain). DR MIM; 609298; gene. DR neXtProt; NX_Q9P283; -. DR OpenTargets; ENSG00000082684; -. DR PharmGKB; PA35659; -. DR VEuPathDB; HostDB:ENSG00000082684; -. DR eggNOG; KOG3611; Eukaryota. DR GeneTree; ENSGT00940000156712; -. DR InParanoid; Q9P283; -. DR OMA; KRNSHGQ; -. DR OrthoDB; 5399685at2759; -. DR PhylomeDB; Q9P283; -. DR TreeFam; TF329951; -. DR PathwayCommons; Q9P283; -. DR Reactome; R-HSA-5083635; Defective B3GALTL causes PpS. DR Reactome; R-HSA-5173214; O-glycosylation of TSR domain-containing proteins. DR SignaLink; Q9P283; -. DR SIGNOR; Q9P283; -. DR BioGRID-ORCS; 54437; 14 hits in 1137 CRISPR screens. DR ChiTaRS; SEMA5B; human. DR GenomeRNAi; 54437; -. DR Pharos; Q9P283; Tbio. DR PRO; PR:Q9P283; -. DR Proteomes; UP000005640; Chromosome 3. DR RNAct; Q9P283; Protein. DR Bgee; ENSG00000082684; Expressed in ventricular zone and 136 other cell types or tissues. DR ExpressionAtlas; Q9P283; baseline and differential. DR GO; GO:0016020; C:membrane; IEA:UniProtKB-SubCell. DR GO; GO:0045499; F:chemorepellent activity; IBA:GO_Central. DR GO; GO:0030215; F:semaphorin receptor binding; IBA:GO_Central. DR GO; GO:0048675; P:axon extension; IBA:GO_Central. DR GO; GO:0007411; P:axon guidance; IBA:GO_Central. DR GO; GO:0050908; P:detection of light stimulus involved in visual perception; IEA:Ensembl. DR GO; GO:0048843; P:negative regulation of axon extension involved in axon guidance; IBA:GO_Central. DR GO; GO:0001755; P:neural crest cell migration; IBA:GO_Central. DR GO; GO:0030335; P:positive regulation of cell migration; IBA:GO_Central. DR GO; GO:0071526; P:semaphorin-plexin signaling pathway; IBA:GO_Central. DR CDD; cd11264; Sema_5B; 1. DR Gene3D; 3.30.1680.10; ligand-binding face of the semaphorins, domain 2; 1. DR Gene3D; 2.20.100.10; Thrombospondin type-1 (TSP1) repeat; 6. DR Gene3D; 2.130.10.10; YVTN repeat-like/Quinoprotein amine dehydrogenase; 1. DR InterPro; IPR002165; Plexin_repeat. DR InterPro; IPR016201; PSI. DR InterPro; IPR001627; Semap_dom. DR InterPro; IPR036352; Semap_dom_sf. DR InterPro; IPR027231; Semaphorin. DR InterPro; IPR000884; TSP1_rpt. DR InterPro; IPR036383; TSP1_rpt_sf. DR InterPro; IPR015943; WD40/YVTN_repeat-like_dom_sf. DR PANTHER; PTHR11036; SEMAPHORIN; 1. DR PANTHER; PTHR11036:SF39; SEMAPHORIN-5B; 1. DR Pfam; PF01437; PSI; 1. DR Pfam; PF01403; Sema; 1. DR Pfam; PF00090; TSP_1; 5. DR PRINTS; PR01705; TSP1REPEAT. DR SMART; SM00423; PSI; 1. DR SMART; SM00630; Sema; 1. DR SMART; SM00209; TSP1; 5. DR SUPFAM; SSF103575; Plexin repeat; 1. DR SUPFAM; SSF101912; Sema domain; 1. DR SUPFAM; SSF82895; TSP-1 type 1 repeat; 5. DR PROSITE; PS51004; SEMA; 1. DR PROSITE; PS50092; TSP1; 5. DR Genevisible; Q9P283; HS. PE 2: Evidence at transcript level; KW Alternative splicing; Developmental protein; Differentiation; KW Disulfide bond; Glycoprotein; Membrane; Neurogenesis; Reference proteome; KW Repeat; Signal-anchor; Transmembrane; Transmembrane helix. FT CHAIN 1..1151 FT /note="Semaphorin-5B" FT /id="PRO_0000032337" FT TOPO_DOM 1..1036 FT /note="Extracellular" FT /evidence="ECO:0000255" FT TRANSMEM 1037..1057 FT /note="Helical; Signal-anchor for type III membrane FT protein" FT /evidence="ECO:0000255" FT TOPO_DOM 1058..1151 FT /note="Cytoplasmic" FT /evidence="ECO:0000255" FT DOMAIN 103..553 FT /note="Sema" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00352" FT DOMAIN 555..602 FT /note="PSI" FT /evidence="ECO:0000255" FT DOMAIN 664..720 FT /note="TSP type-1 1" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DOMAIN 722..771 FT /note="TSP type-1 2" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DOMAIN 853..908 FT /note="TSP type-1 3" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DOMAIN 910..965 FT /note="TSP type-1 4" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DOMAIN 966..1010 FT /note="TSP type-1 5" FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT CARBOHYD 153 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 236 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 345 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 436 FT /note="N-linked (GlcNAc...) asparagine" FT /evidence="ECO:0000255" FT CARBOHYD 788 FT /note="O-linked (GalNAc...) threonine" FT /evidence="ECO:0000255" FT DISULFID 172..182 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00352" FT DISULFID 199..208 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00352" FT DISULFID 322..425 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00352" FT DISULFID 346..388 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00352" FT DISULFID 676..713 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 680..719 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 691..703 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 734..765 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 738..770 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 749..755 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 865..902 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 869..907 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 880..892 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 922..959 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 926..964 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT DISULFID 937..949 FT /evidence="ECO:0000255|PROSITE-ProRule:PRU00210" FT VAR_SEQ 1 FT /note="M -> MLHLSAEEAIGCVRVRRSFIDELAFGRGHSTGTGKQKRRDRVSGSSW FT CLACVSWM (in isoform 4)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_044748" FT VAR_SEQ 760 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:12975309" FT /id="VSP_029462" FT VAR_SEQ 944..964 FT /note="Missing (in isoform 3)" FT /evidence="ECO:0000303|PubMed:14702039" FT /id="VSP_029463" FT VAR_SEQ 966 FT /note="Missing (in isoform 2)" FT /evidence="ECO:0000303|PubMed:12975309" FT /id="VSP_029464" FT VAR_SEQ 1032..1151 FT /note="FNLIHLVATGISCFLGSGLLTLAVYLSCQHCQRQSQESTLVHPATPNHLHYK FT GGGTPKNEKYTPMEFKTLNKNNLIPDDRANFYPLQQTNVYTTTYYPSPLNKHSFRPEAS FT PGQRCFPNS -> KRNRTYLMLRSSQPSSTPLQSLDSFHILLQTAKLCWGPHCFEMGSI FT SSTWWPRASPASWALGS (in isoform 2)" FT /evidence="ECO:0000303|PubMed:12975309" FT /id="VSP_029465" FT VARIANT 42 FT /note="G -> S (in a breast cancer sample; somatic mutation; FT dbSNP:rs148102705)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_037196" FT VARIANT 220 FT /note="I -> T (in dbSNP:rs2276774)" FT /evidence="ECO:0000269|PubMed:10819331, FT ECO:0000269|PubMed:14702039" FT /id="VAR_037197" FT VARIANT 223 FT /note="I -> M (in a breast cancer sample; somatic FT mutation)" FT /evidence="ECO:0000269|PubMed:16959974" FT /id="VAR_037198" FT VARIANT 742 FT /note="M -> T (in dbSNP:rs2276781)" FT /evidence="ECO:0000269|PubMed:14702039" FT /id="VAR_037199" FT VARIANT 840 FT /note="V -> D (in dbSNP:rs2276782)" FT /evidence="ECO:0000269|PubMed:10819331, FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334" FT /id="VAR_037200" FT VARIANT 996 FT /note="S -> P (in dbSNP:rs35306342)" FT /id="VAR_037201" FT VARIANT 1028 FT /note="D -> G (in dbSNP:rs2303983)" FT /evidence="ECO:0000269|PubMed:10819331, FT ECO:0000269|PubMed:14702039, ECO:0000269|PubMed:15489334" FT /id="VAR_037202" FT CONFLICT 703 FT /note="C -> F (in Ref. 2; AAQ88491)" FT /evidence="ECO:0000305" FT CONFLICT Q9P283-4:14 FT /note="R -> K (in Ref. 3; BAH12129)" FT /evidence="ECO:0000305" SQ SEQUENCE 1151 AA; 125913 MW; 96B1D4BC2A1E36C9 CRC64; MPCGFSPSPV AHHLVPGPPD TPAQQLRCGW TVGGWLLSLV RGLLPCLPPG ARTAEGPIMV LAGPLAVSLL LPSLTLLVSH LSSSQDVSSE PSSEQQLCAL SKHPTVAFED LQPWVSNFTY PGARDFSQLA LDPSGNQLIV GARNYLFRLS LANVSLLQAT EWASSEDTRR SCQSKGKTEE ECQNYVRVLI VAGRKVFMCG TNAFSPMCTS RQVGNLSRTI EKINGVARCP YDPRHNSTAV ISSQGELYAA TVIDFSGRDP AIYRSLGSGP PLRTAQYNSK WLNEPNFVAA YDIGLFAYFF LRENAVEHDC GRTVYSRVAR VCKNDVGGRF LLEDTWTTFM KARLNCSRPG EVPFYYNELQ SAFHLPEQDL IYGVFTTNVN SIAASAVCAF NLSAISQAFN GPFRYQENPR AAWLPIANPI PNFQCGTLPE TGPNENLTER SLQDAQRLFL MSEAVQPVTP EPCVTQDSVR FSHLVVDLVQ AKDTLYHVLY IGTESGTILK ALSTASRSLH GCYLEELHVL PPGRREPLRS LRILHSARAL FVGLRDGVLR VPLERCAAYR SQGACLGARD PYCGWDGKQQ RCSTLEDSSN MSLWTQNITA CPVRNVTRDG GFGPWSPWQP CEHLDGDNSG SCLCRARSCD SPRPRCGGLD CLGPAIHIAN CSRNGAWTPW SSWALCSTSC GIGFQVRQRS CSNPAPRHGG RICVGKSREE RFCNENTPCP VPIFWASWGS WSKCSSNCGG GMQSRRRACE NGNSCLGCGV EFKTCNPEGC PEVRRNTPWT PWLPVNVTQG GARQEQRFRF TCRAPLADPH GLQFGRRRTE TRTCPADGSG SCDTDALVEV LLRSGSTSPH TVSGGWAAWG PWSSCSRDCE LGFRVRKRTC TNPEPRNGGL PCVGDAAEYQ DCNPQACPVR GAWSCWTSWS PCSASCGGGH YQRTRSCTSP APSPGEDICL GLHTEEALCA TQACPEGWSP WSEWSKCTDD GAQSRSRHCE ELLPGSSACA GNSSQSRPCP YSEIPVILPA SSMEEATDCA GFNLIHLVAT GISCFLGSGL LTLAVYLSCQ HCQRQSQEST LVHPATPNHL HYKGGGTPKN EKYTPMEFKT LNKNNLIPDD RANFYPLQQT NVYTTTYYPS PLNKHSFRPE ASPGQRCFPN S //