POF1B_HUMAN
ID POF1B_HUMAN Reviewed; 589 AA.
AC Q8WVV4; A8K2U5; Q5H9E9; Q5H9F0; Q8NG12; Q9H5Y2; Q9H738; Q9H744;
DT 17-OCT-2006, integrated into UniProtKB/Swiss-Prot.
DT 03-MAY-2011, sequence version 3.
DT 03-AUG-2022, entry version 145.
DE RecName: Full=Protein POF1B;
DE AltName: Full=Premature ovarian failure protein 1B;
GN Name=POF1B;
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), AND VARIANTS SER-239; GLN-329;
RP LEU-349; LYS-434 AND TYR-444.
RX PubMed=15459172; DOI=10.1093/humrep/deh502;
RA Bione S., Rizzolio F., Sala C., Ricotti R., Goegan M., Manzini M.C.,
RA Battaglia R., Marozzi A., Vegetti W., Dalpra L., Crosignani P.G.,
RA Ginelli E., Nappi R., Bernabini S., Bruni V., Torricelli F., Zuffardi O.,
RA Toniolo D.;
RT "Mutation analysis of two candidate genes for premature ovarian failure,
RT DACH2 and POF1B.";
RL Hum. Reprod. 19:2759-2766(2004).
RN [2]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3), AND VARIANT
RP LEU-349.
RC TISSUE=Colon, Ileal mucosa, Placenta, and Tongue;
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 [3]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX PubMed=15772651; DOI=10.1038/nature03440;
RA Ross M.T., Grafham D.V., Coffey A.J., Scherer S., McLay K., Muzny D.,
RA Platzer M., Howell G.R., Burrows C., Bird C.P., Frankish A., Lovell F.L.,
RA Howe K.L., Ashurst J.L., Fulton R.S., Sudbrak R., Wen G., Jones M.C.,
RA Hurles M.E., Andrews T.D., Scott C.E., Searle S., Ramser J., Whittaker A.,
RA Deadman R., Carter N.P., Hunt S.E., Chen R., Cree A., Gunaratne P.,
RA Havlak P., Hodgson A., Metzker M.L., Richards S., Scott G., Steffen D.,
RA Sodergren E., Wheeler D.A., Worley K.C., Ainscough R., Ambrose K.D.,
RA Ansari-Lari M.A., Aradhya S., Ashwell R.I., Babbage A.K., Bagguley C.L.,
RA Ballabio A., Banerjee R., Barker G.E., Barlow K.F., Barrett I.P.,
RA Bates K.N., Beare D.M., Beasley H., Beasley O., Beck A., Bethel G.,
RA Blechschmidt K., Brady N., Bray-Allen S., Bridgeman A.M., Brown A.J.,
RA Brown M.J., Bonnin D., Bruford E.A., Buhay C., Burch P., Burford D.,
RA Burgess J., Burrill W., Burton J., Bye J.M., Carder C., Carrel L.,
RA Chako J., Chapman J.C., Chavez D., Chen E., Chen G., Chen Y., Chen Z.,
RA Chinault C., Ciccodicola A., Clark S.Y., Clarke G., Clee C.M., Clegg S.,
RA Clerc-Blankenburg K., Clifford K., Cobley V., Cole C.G., Conquer J.S.,
RA Corby N., Connor R.E., David R., Davies J., Davis C., Davis J., Delgado O.,
RA Deshazo D., Dhami P., Ding Y., Dinh H., Dodsworth S., Draper H.,
RA Dugan-Rocha S., Dunham A., Dunn M., Durbin K.J., Dutta I., Eades T.,
RA Ellwood M., Emery-Cohen A., Errington H., Evans K.L., Faulkner L.,
RA Francis F., Frankland J., Fraser A.E., Galgoczy P., Gilbert J., Gill R.,
RA Gloeckner G., Gregory S.G., Gribble S., Griffiths C., Grocock R., Gu Y.,
RA Gwilliam R., Hamilton C., Hart E.A., Hawes A., Heath P.D., Heitmann K.,
RA Hennig S., Hernandez J., Hinzmann B., Ho S., Hoffs M., Howden P.J.,
RA Huckle E.J., Hume J., Hunt P.J., Hunt A.R., Isherwood J., Jacob L.,
RA Johnson D., Jones S., de Jong P.J., Joseph S.S., Keenan S., Kelly S.,
RA Kershaw J.K., Khan Z., Kioschis P., Klages S., Knights A.J., Kosiura A.,
RA Kovar-Smith C., Laird G.K., Langford C., Lawlor S., Leversha M., Lewis L.,
RA Liu W., Lloyd C., Lloyd D.M., Loulseged H., Loveland J.E., Lovell J.D.,
RA Lozado R., Lu J., Lyne R., Ma J., Maheshwari M., Matthews L.H.,
RA McDowall J., McLaren S., McMurray A., Meidl P., Meitinger T., Milne S.,
RA Miner G., Mistry S.L., Morgan M., Morris S., Mueller I., Mullikin J.C.,
RA Nguyen N., Nordsiek G., Nyakatura G., O'dell C.N., Okwuonu G., Palmer S.,
RA Pandian R., Parker D., Parrish J., Pasternak S., Patel D., Pearce A.V.,
RA Pearson D.M., Pelan S.E., Perez L., Porter K.M., Ramsey Y., Reichwald K.,
RA Rhodes S., Ridler K.A., Schlessinger D., Schueler M.G., Sehra H.K.,
RA Shaw-Smith C., Shen H., Sheridan E.M., Shownkeen R., Skuce C.D.,
RA Smith M.L., Sotheran E.C., Steingruber H.E., Steward C.A., Storey R.,
RA Swann R.M., Swarbreck D., Tabor P.E., Taudien S., Taylor T., Teague B.,
RA Thomas K., Thorpe A., Timms K., Tracey A., Trevanion S., Tromans A.C.,
RA d'Urso M., Verduzco D., Villasana D., Waldron L., Wall M., Wang Q.,
RA Warren J., Warry G.L., Wei X., West A., Whitehead S.L., Whiteley M.N.,
RA Wilkinson J.E., Willey D.L., Williams G., Williams L., Williamson A.,
RA Williamson H., Wilming L., Woodmansey R.L., Wray P.W., Yen J., Zhang J.,
RA Zhou J., Zoghbi H., Zorilla S., Buck D., Reinhardt R., Poustka A.,
RA Rosenthal A., Lehrach H., Meindl A., Minx P.J., Hillier L.W., Willard H.F.,
RA Wilson R.K., Waterston R.H., Rice C.M., Vaudin M., Coulson A., Nelson D.L.,
RA Weinstock G., Sulston J.E., Durbin R.M., Hubbard T., Gibbs R.A., Beck S.,
RA Rogers J., Bentley D.R.;
RT "The DNA sequence of the human X chromosome.";
RL Nature 434:325-337(2005).
RN [4]
RP NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA], AND VARIANT LEU-349.
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 MRNA] (ISOFORM 1), AND VARIANT LEU-349.
RC TISSUE=Muscle;
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 FUNCTION, INTERACTION WITH ACTIN, VARIANT POF2B GLN-329, AND
RP CHARACTERIZATION OF VARIANT POF2B GLN-329.
RX PubMed=16773570; DOI=10.1086/505406;
RA Lacombe A., Lee H., Zahed L., Choucair M., Muller J.-M., Nelson S.F.,
RA Salameh W., Vilain E.;
RT "Disruption of POF1B binding to nonmuscle actin filaments is associated
RT with premature ovarian failure.";
RL Am. J. Hum. Genet. 79:113-119(2006).
RN [7]
RP FUNCTION, SUBCELLULAR LOCATION, AND CHARACTERIZATION OF VARIANT POF2B
RP GLN-329.
RC TISSUE=Jejunum;
RX PubMed=21940798; DOI=10.1242/jcs.088237;
RA Padovano V., Lucibello I., Alari V., Della Mina P., Crespi A., Ferrari I.,
RA Recagni M., Lattuada D., Righi M., Toniolo D., Villa A., Pietrini G.;
RT "The POF1B candidate gene for premature ovarian failure regulates
RT epithelial polarity.";
RL J. Cell Sci. 124:3356-3368(2011).
RN [8]
RP IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC TISSUE=Liver;
RX PubMed=24275569; DOI=10.1016/j.jprot.2013.11.014;
RA Bian Y., Song C., Cheng K., Dong M., Wang F., Huang J., Sun D., Wang L.,
RA Ye M., Zou H.;
RT "An enzyme assisted RP-RPLC approach for in-depth analysis of human liver
RT phosphoproteome.";
RL J. Proteomics 96:253-262(2014).
CC -!- FUNCTION: Plays a key role in the organization of epithelial monolayers
CC by regulating the actin cytoskeleton. May be involved in ovary
CC development. {ECO:0000269|PubMed:16773570,
CC ECO:0000269|PubMed:21940798}.
CC -!- SUBUNIT: Interacts with nonmuscle actin. {ECO:0000269|PubMed:16773570}.
CC -!- INTERACTION:
CC Q8WVV4-1; P40617: ARL4A; NbExp=3; IntAct=EBI-11986735, EBI-2875746;
CC Q8WVV4-1; P41182: BCL6; NbExp=3; IntAct=EBI-11986735, EBI-765407;
CC Q8WVV4-1; P27658: COL8A1; NbExp=3; IntAct=EBI-11986735, EBI-747133;
CC Q8WVV4-1; Q86YD7: FAM90A1; NbExp=3; IntAct=EBI-11986735, EBI-6658203;
CC Q8WVV4-1; O43559: FRS3; NbExp=3; IntAct=EBI-11986735, EBI-725515;
CC Q8WVV4-1; P55040: GEM; NbExp=3; IntAct=EBI-11986735, EBI-744104;
CC Q8WVV4-1; Q86VF2-5: IGFN1; NbExp=3; IntAct=EBI-11986735, EBI-11955401;
CC Q8WVV4-1; Q7L273: KCTD9; NbExp=3; IntAct=EBI-11986735, EBI-4397613;
CC Q8WVV4-1; Q2WGJ6: KLHL38; NbExp=3; IntAct=EBI-11986735, EBI-6426443;
CC Q8WVV4-1; Q8TCE9: LGALS14; NbExp=3; IntAct=EBI-11986735, EBI-10274069;
CC Q8WVV4-1; O60437: PPL; NbExp=3; IntAct=EBI-11986735, EBI-368321;
CC Q8WVV4-1; O75679: RFPL3; NbExp=3; IntAct=EBI-11986735, EBI-10188956;
CC Q8WVV4-1; Q9BSW7: SYT17; NbExp=3; IntAct=EBI-11986735, EBI-745392;
CC -!- SUBCELLULAR LOCATION: Cell junction, tight junction
CC {ECO:0000269|PubMed:21940798}.
CC -!- ALTERNATIVE PRODUCTS:
CC Event=Alternative splicing; Named isoforms=3;
CC Name=2;
CC IsoId=Q8WVV4-2; Sequence=Displayed;
CC Name=1;
CC IsoId=Q8WVV4-1; Sequence=VSP_021151;
CC Name=3;
CC IsoId=Q8WVV4-3; Sequence=VSP_021149, VSP_021150;
CC -!- DISEASE: Premature ovarian failure 2B (POF2B) [MIM:300604]: An ovarian
CC disorder defined as the cessation of ovarian function under the age of
CC 40 years. It is characterized by oligomenorrhea or amenorrhea, in the
CC presence of elevated levels of serum gonadotropins and low estradiol.
CC {ECO:0000269|PubMed:16773570, ECO:0000269|PubMed:21940798}. Note=The
CC disease is caused by variants affecting the gene represented in this
CC entry.
CC -!- SEQUENCE CAUTION:
CC Sequence=BAB15061.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305};
CC Sequence=BAB15485.1; Type=Frameshift; 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; AF309774; AAM93270.1; -; mRNA.
DR EMBL; AK025039; BAB15055.1; -; mRNA.
DR EMBL; AK025080; BAB15061.1; ALT_INIT; mRNA.
DR EMBL; AK026445; BAB15485.1; ALT_SEQ; mRNA.
DR EMBL; AK290360; BAF83049.1; -; mRNA.
DR EMBL; AK314295; BAG36950.1; -; mRNA.
DR EMBL; AL117325; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; Z82216; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR EMBL; CH471104; EAW98561.1; -; Genomic_DNA.
DR EMBL; BC017500; AAH17500.1; -; mRNA.
DR CCDS; CCDS14452.1; -. [Q8WVV4-2]
DR CCDS; CCDS78497.1; -. [Q8WVV4-1]
DR RefSeq; NP_001294869.1; NM_001307940.1. [Q8WVV4-1]
DR RefSeq; NP_079197.3; NM_024921.3. [Q8WVV4-2]
DR PDB; 3BH9; X-ray; 1.70 A; C=53-62.
DR PDBsum; 3BH9; -.
DR AlphaFoldDB; Q8WVV4; -.
DR SMR; Q8WVV4; -.
DR BioGRID; 123048; 229.
DR IntAct; Q8WVV4; 64.
DR MINT; Q8WVV4; -.
DR STRING; 9606.ENSP00000262753; -.
DR GlyGen; Q8WVV4; 1 site, 1 O-linked glycan (1 site).
DR iPTMnet; Q8WVV4; -.
DR PhosphoSitePlus; Q8WVV4; -.
DR BioMuta; POF1B; -.
DR DMDM; 332278224; -.
DR EPD; Q8WVV4; -.
DR jPOST; Q8WVV4; -.
DR MassIVE; Q8WVV4; -.
DR MaxQB; Q8WVV4; -.
DR PaxDb; Q8WVV4; -.
DR PeptideAtlas; Q8WVV4; -.
DR PRIDE; Q8WVV4; -.
DR ProteomicsDB; 74820; -. [Q8WVV4-2]
DR ProteomicsDB; 74821; -. [Q8WVV4-1]
DR ProteomicsDB; 74822; -. [Q8WVV4-3]
DR Antibodypedia; 453; 103 antibodies from 21 providers.
DR DNASU; 79983; -.
DR Ensembl; ENST00000262753.9; ENSP00000262753.4; ENSG00000124429.18. [Q8WVV4-2]
DR Ensembl; ENST00000373145.3; ENSP00000362238.3; ENSG00000124429.18. [Q8WVV4-1]
DR GeneID; 79983; -.
DR KEGG; hsa:79983; -.
DR MANE-Select; ENST00000262753.9; ENSP00000262753.4; NM_024921.4; NP_079197.3.
DR UCSC; uc004eer.3; human. [Q8WVV4-2]
DR CTD; 79983; -.
DR DisGeNET; 79983; -.
DR GeneCards; POF1B; -.
DR HGNC; HGNC:13711; POF1B.
DR HPA; ENSG00000124429; Tissue enhanced (intestine, skin).
DR MalaCards; POF1B; -.
DR MIM; 300603; gene.
DR MIM; 300604; phenotype.
DR neXtProt; NX_Q8WVV4; -.
DR OpenTargets; ENSG00000124429; -.
DR Orphanet; 619; NON RARE IN EUROPE: Primary ovarian failure.
DR PharmGKB; PA134937695; -.
DR VEuPathDB; HostDB:ENSG00000124429; -.
DR eggNOG; ENOG502QRUE; Eukaryota.
DR GeneTree; ENSGT00390000000141; -.
DR HOGENOM; CLU_031293_0_0_1; -.
DR InParanoid; Q8WVV4; -.
DR OMA; LEYCKHN; -.
DR OrthoDB; 724143at2759; -.
DR TreeFam; TF331412; -.
DR PathwayCommons; Q8WVV4; -.
DR SignaLink; Q8WVV4; -.
DR BioGRID-ORCS; 79983; 12 hits in 688 CRISPR screens.
DR ChiTaRS; POF1B; human.
DR EvolutionaryTrace; Q8WVV4; -.
DR GeneWiki; POF1B; -.
DR GenomeRNAi; 79983; -.
DR Pharos; Q8WVV4; Tbio.
DR PRO; PR:Q8WVV4; -.
DR Proteomes; UP000005640; Chromosome X.
DR RNAct; Q8WVV4; protein.
DR Bgee; ENSG00000124429; Expressed in upper arm skin and 124 other tissues.
DR Genevisible; Q8WVV4; HS.
DR GO; GO:0005884; C:actin filament; IDA:UniProtKB.
DR GO; GO:0005912; C:adherens junction; IDA:UniProtKB.
DR GO; GO:0005923; C:bicellular tight junction; IDA:UniProtKB.
DR GO; GO:0030057; C:desmosome; IEA:Ensembl.
DR GO; GO:0051015; F:actin filament binding; IMP:UniProtKB.
DR GO; GO:0030036; P:actin cytoskeleton organization; IMP:UniProtKB.
DR GO; GO:0007015; P:actin filament organization; IMP:UniProtKB.
DR GO; GO:0070830; P:bicellular tight junction assembly; IMP:UniProtKB.
DR GO; GO:0003382; P:epithelial cell morphogenesis; IMP:UniProtKB.
DR InterPro; IPR026186; POF1B.
DR PANTHER; PTHR22546; PTHR22546; 1.
PE 1: Evidence at protein level;
KW 3D-structure; Actin-binding; Alternative splicing; Cell junction;
KW Coiled coil; Disease variant; Premature ovarian failure;
KW Reference proteome; Tight junction.
FT CHAIN 1..589
FT /note="Protein POF1B"
FT /id="PRO_0000253911"
FT COILED 334..443
FT /evidence="ECO:0000255"
FT VAR_SEQ 284..306
FT /note="GSKQDFESTDESEDIESLIPKGL -> RKQSLSSTYTIRHGIQTKRTGIL
FT (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021149"
FT VAR_SEQ 307..589
FT /note="Missing (in isoform 3)"
FT /evidence="ECO:0000303|PubMed:14702039"
FT /id="VSP_021150"
FT VAR_SEQ 589
FT /note="P -> VSSLGHF (in isoform 1)"
FT /evidence="ECO:0000303|PubMed:15489334"
FT /id="VSP_021151"
FT VARIANT 207
FT /note="P -> S (in dbSNP:rs363766)"
FT /id="VAR_028753"
FT VARIANT 239
FT /note="C -> S (in dbSNP:rs147563033)"
FT /evidence="ECO:0000269|PubMed:15459172"
FT /id="VAR_028754"
FT VARIANT 296
FT /note="E -> A (in dbSNP:rs363751)"
FT /id="VAR_028755"
FT VARIANT 323
FT /note="M -> V (in dbSNP:rs363775)"
FT /id="VAR_028756"
FT VARIANT 329
FT /note="R -> Q (in POF2B; disrupts binding to nonmuscle
FT actin filaments; abolishes tight junction localization;
FT altered ciliogenesis and cystogenesis; dbSNP:rs75398746)"
FT /evidence="ECO:0000269|PubMed:15459172,
FT ECO:0000269|PubMed:16773570, ECO:0000269|PubMed:21940798"
FT /id="VAR_028757"
FT VARIANT 349
FT /note="M -> L (in dbSNP:rs363774)"
FT /evidence="ECO:0000269|PubMed:14702039,
FT ECO:0000269|PubMed:15459172, ECO:0000269|PubMed:15489334,
FT ECO:0000269|Ref.4"
FT /id="VAR_028758"
FT VARIANT 434
FT /note="Q -> K (in dbSNP:rs139385491)"
FT /evidence="ECO:0000269|PubMed:15459172"
FT /id="VAR_028759"
FT VARIANT 444
FT /note="C -> Y (in dbSNP:rs768162591)"
FT /evidence="ECO:0000269|PubMed:15459172"
FT /id="VAR_028760"
FT CONFLICT 180
FT /note="Q -> E (in Ref. 1; AAM93270)"
FT /evidence="ECO:0000305"
FT CONFLICT 503
FT /note="L -> F (in Ref. 2; BAB15485)"
FT /evidence="ECO:0000305"
SQ SEQUENCE 589 AA; 68065 MW; 6698CBE405364159 CRC64;
MSSSYWSETS SSSCGTQQLP EVLQCQPQHY HCYHQSSQAQ QPPEKNVVYE RVRTYSGPMN
KVVQALDPFN SREVLSPLKT TSSYQNLVWS DHSQELHSPT LKISTCAPST LHITQNTEQE
LHSPTVKLTT YPQTTIRKYV VQNPEQEPLS QFLRGSHFFP GNNVIYEKTI RKVEKLNTDQ
GCHPQAQCHH HIIQQPQVIH SAHWQQPDSS QQIQAITGNN PISTHIGNEL CHSGSSQICE
QVIIQDDGPE KLDPRYFGEL LADLSRKNTD LYHCLLEHLQ RIGGSKQDFE STDESEDIES
LIPKGLSEFT KQQIRYILQM RGMSDKSLRL VLSTFSNIRE ELGHLQNDMT SLENDKMRLE
KDLSFKDTQL KEYEELLASV RANNHQQQQG LQDSSSKCQA LEENNLSLRH TLSDMEYRLK
ELEYCKRNLE QENQNLRMQV SETCTGPMLQ AKMDEIGNHY TEMVKNLRME KDREICRLRS
QLNQYHKDVS KREGSCSDFQ FKLHELTSLL EEKDSLIKRQ SEELSKLRQE IYSSHNQPST
GGRTTITTKK YRTQYPILGL LYDDYEYIPP GSETQTIVIE KTEDKYTCP