ID   VANG1_HUMAN             Reviewed;         524 AA.
AC   Q8TAA9; Q5T1D3; Q5T1D4; Q86WG8; Q8N559;
DT   31-OCT-2003, integrated into UniProtKB/Swiss-Prot.
DT   01-JUN-2002, sequence version 1.
DT   27-MAR-2024, entry version 165.
DE   RecName: Full=Vang-like protein 1;
DE   AltName: Full=Loop-tail protein 2 homolog;
DE            Short=LPP2;
DE   AltName: Full=Strabismus 2;
DE   AltName: Full=Van Gogh-like protein 1;
GN   Name=VANGL1; Synonyms=STB2;
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 1), AND TISSUE SPECIFICITY.
RX   PubMed=11956595;
RA   Katoh M.;
RT   "Molecular cloning and characterization of Strabismus 2 (STB2).";
RL   Int. J. Oncol. 20:993-998(2002).
RN   [2]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1), AND TISSUE SPECIFICITY.
RX   PubMed=12011995;
RA   Yagyu R., Hamamoto R., Furukawa Y., Okabe H., Yamamura T., Nakamura Y.;
RT   "Isolation and characterization of a novel human gene, VANGL1, as a
RT   therapeutic target for hepatocellular carcinoma.";
RL   Int. J. Oncol. 20:1173-1178(2002).
RN   [3]
RP   NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2).
RA   Doudney K., Paternotte C., Murdoch J.N., Copp A.J., Stanier P.;
RT   "Identification of LPP2, a second Vang-like protein.";
RL   Submitted (FEB-2002) to the EMBL/GenBank/DDBJ databases.
RN   [4]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
RX   PubMed=16710414; DOI=10.1038/nature04727;
RA   Gregory S.G., Barlow K.F., McLay K.E., Kaul R., Swarbreck D., Dunham A.,
RA   Scott C.E., Howe K.L., Woodfine K., Spencer C.C.A., Jones M.C., Gillson C.,
RA   Searle S., Zhou Y., Kokocinski F., McDonald L., Evans R., Phillips K.,
RA   Atkinson A., Cooper R., Jones C., Hall R.E., Andrews T.D., Lloyd C.,
RA   Ainscough R., Almeida J.P., Ambrose K.D., Anderson F., Andrew R.W.,
RA   Ashwell R.I.S., Aubin K., Babbage A.K., Bagguley C.L., Bailey J.,
RA   Beasley H., Bethel G., Bird C.P., Bray-Allen S., Brown J.Y., Brown A.J.,
RA   Buckley D., Burton J., Bye J., Carder C., Chapman J.C., Clark S.Y.,
RA   Clarke G., Clee C., Cobley V., Collier R.E., Corby N., Coville G.J.,
RA   Davies J., Deadman R., Dunn M., Earthrowl M., Ellington A.G., Errington H.,
RA   Frankish A., Frankland J., French L., Garner P., Garnett J., Gay L.,
RA   Ghori M.R.J., Gibson R., Gilby L.M., Gillett W., Glithero R.J.,
RA   Grafham D.V., Griffiths C., Griffiths-Jones S., Grocock R., Hammond S.,
RA   Harrison E.S.I., Hart E., Haugen E., Heath P.D., Holmes S., Holt K.,
RA   Howden P.J., Hunt A.R., Hunt S.E., Hunter G., Isherwood J., James R.,
RA   Johnson C., Johnson D., Joy A., Kay M., Kershaw J.K., Kibukawa M.,
RA   Kimberley A.M., King A., Knights A.J., Lad H., Laird G., Lawlor S.,
RA   Leongamornlert D.A., Lloyd D.M., Loveland J., Lovell J., Lush M.J.,
RA   Lyne R., Martin S., Mashreghi-Mohammadi M., Matthews L., Matthews N.S.W.,
RA   McLaren S., Milne S., Mistry S., Moore M.J.F., Nickerson T., O'Dell C.N.,
RA   Oliver K., Palmeiri A., Palmer S.A., Parker A., Patel D., Pearce A.V.,
RA   Peck A.I., Pelan S., Phelps K., Phillimore B.J., Plumb R., Rajan J.,
RA   Raymond C., Rouse G., Saenphimmachak C., Sehra H.K., Sheridan E.,
RA   Shownkeen R., Sims S., Skuce C.D., Smith M., Steward C., Subramanian S.,
RA   Sycamore N., Tracey A., Tromans A., Van Helmond Z., Wall M., Wallis J.M.,
RA   White S., Whitehead S.L., Wilkinson J.E., Willey D.L., Williams H.,
RA   Wilming L., Wray P.W., Wu Z., Coulson A., Vaudin M., Sulston J.E.,
RA   Durbin R.M., Hubbard T., Wooster R., Dunham I., Carter N.P., McVean G.,
RA   Ross M.T., Harrow J., Olson M.V., Beck S., Rogers J., Bentley D.R.;
RT   "The DNA sequence and biological annotation of human chromosome 1.";
RL   Nature 441:315-321(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 (JUL-2005) to the EMBL/GenBank/DDBJ databases.
RN   [6]
RP   NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
RC   TISSUE=Prostate, and Skin;
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   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18691976; DOI=10.1016/j.molcel.2008.07.007;
RA   Daub H., Olsen J.V., Bairlein M., Gnad F., Oppermann F.S., Korner R.,
RA   Greff Z., Keri G., Stemmann O., Mann M.;
RT   "Kinase-selective enrichment enables quantitative phosphoproteomics of the
RT   kinome across the cell cycle.";
RL   Mol. Cell 31:438-448(2008).
RN   [8]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Cervix carcinoma;
RX   PubMed=18669648; DOI=10.1073/pnas.0805139105;
RA   Dephoure N., Zhou C., Villen J., Beausoleil S.A., Bakalarski C.E.,
RA   Elledge S.J., Gygi S.P.;
RT   "A quantitative atlas of mitotic phosphorylation.";
RL   Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008).
RN   [9]
RP   IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
RC   TISSUE=Leukemic T-cell;
RX   PubMed=19690332; DOI=10.1126/scisignal.2000007;
RA   Mayya V., Lundgren D.H., Hwang S.-I., Rezaul K., Wu L., Eng J.K.,
RA   Rodionov V., Han D.K.;
RT   "Quantitative phosphoproteomic analysis of T cell receptor signaling
RT   reveals system-wide modulation of protein-protein interactions.";
RL   Sci. Signal. 2:RA46-RA46(2009).
RN   [10]
RP   VARIANT THR-116.
RX   PubMed=15952208; DOI=10.1002/ajmg.a.30766;
RA   Doudney K., Ybot-Gonzalez P., Paternotte C., Stevenson R.E., Greene N.D.,
RA   Moore G.E., Copp A.J., Stanier P.;
RT   "Analysis of the planar cell polarity gene Vangl2 and its co-expressed
RT   paralogue Vangl1 in neural tube defect patients.";
RL   Am. J. Med. Genet. A 136:90-92(2005).
RN   [11]
RP   VARIANT SDAM ILE-239, VARIANTS NTD GLN-274 AND THR-328, CHARACTERIZATION OF
RP   VARIANT SDAM ILE-239, AND CHARACTERIZATION OF VARIANTS NTD GLN-274 AND
RP   THR-328.
RX   PubMed=17409324; DOI=10.1056/nejmoa060651;
RA   Kibar Z., Torban E., McDearmid J.R., Reynolds A., Berghout J., Mathieu M.,
RA   Kirillova I., De Marco P., Merello E., Hayes J.M., Wallingford J.B.,
RA   Drapeau P., Capra V., Gros P.;
RT   "Mutations in VANGL1 associated with neural-tube defects.";
RL   N. Engl. J. Med. 356:1432-1437(2007).
RN   [12]
RP   VARIANTS NTD LEU-83; SER-153; GLN-181; PHE-202 AND SER-404, AND VARIANTS
RP   LYS-25; GLN-175; MET-251; HIS-290 AND GLU-468.
RX   PubMed=19319979; DOI=10.1002/humu.21026;
RA   Kibar Z., Bosoi C.M., Kooistra M., Salem S., Finnell R.H., De Marco P.,
RA   Merello E., Bassuk A.G., Capra V., Gros P.;
RT   "Novel mutations in VANGL1 in neural tube defects.";
RL   Hum. Mutat. 30:E706-E715(2009).
CC   -!- SUBUNIT: Heterodimer with VANGL2. Interacts through its C-terminal
CC       region with the N-terminal half of DVL1, DVL2 and DVL3. The PDZ domain
CC       of DVL1, DVL2 and DVL3 is required for the interaction (By similarity).
CC       {ECO:0000250}.
CC   -!- INTERACTION:
CC       Q8TAA9; P27701: CD82; NbExp=6; IntAct=EBI-682393, EBI-682379;
CC       Q8TAA9; O43889-2: CREB3; NbExp=3; IntAct=EBI-682393, EBI-625022;
CC       Q8TAA9; P26045: PTPN3; NbExp=4; IntAct=EBI-682393, EBI-1047946;
CC   -!- SUBCELLULAR LOCATION: Cell membrane {ECO:0000250}; Multi-pass membrane
CC       protein {ECO:0000250}.
CC   -!- ALTERNATIVE PRODUCTS:
CC       Event=Alternative splicing; Named isoforms=2;
CC       Name=1;
CC         IsoId=Q8TAA9-1; Sequence=Displayed;
CC       Name=2;
CC         IsoId=Q8TAA9-2; Sequence=VSP_008742;
CC   -!- TISSUE SPECIFICITY: According to PubMed:11956595, ubiquitously
CC       expressed. According to PubMed:12011995, expressed specifically in
CC       testis and ovary. {ECO:0000269|PubMed:11956595,
CC       ECO:0000269|PubMed:12011995}.
CC   -!- DISEASE: Neural tube defects (NTD) [MIM:182940]: Congenital
CC       malformations of the central nervous system and adjacent structures
CC       related to defective neural tube closure during the first trimester of
CC       pregnancy. Failure of neural tube closure can occur at any level of the
CC       embryonic axis. Common NTD forms include anencephaly, myelomeningocele
CC       and spina bifida, which result from the failure of fusion in the
CC       cranial and spinal region of the neural tube. NTDs have a
CC       multifactorial etiology encompassing both genetic and environmental
CC       components. {ECO:0000269|PubMed:17409324, ECO:0000269|PubMed:19319979}.
CC       Note=The disease is caused by variants affecting the gene represented
CC       in this entry.
CC   -!- DISEASE: Sacral defect with anterior meningocele (SDAM) [MIM:600145]:
CC       Form of caudal dysgenesis. It is present at birth and becomes
CC       symptomatic later in life, usually because of obstructive labor in
CC       females, chronic constipation, or meningitis. Inheritance is autosomal
CC       dominant. {ECO:0000269|PubMed:17409324}. Note=The disease is caused by
CC       variants affecting the gene represented in this entry.
CC   -!- SIMILARITY: Belongs to the Vang family. {ECO:0000305}.
CC   -!- SEQUENCE CAUTION:
CC       Sequence=AAH32773.1; Type=Erroneous initiation; Evidence={ECO:0000305};
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DR   EMBL; AB075805; BAB86362.1; -; mRNA.
DR   EMBL; AB057596; BAB86334.1; -; mRNA.
DR   EMBL; AF481859; AAO61751.1; -; mRNA.
DR   EMBL; AL450389; -; NOT_ANNOTATED_CDS; Genomic_DNA.
DR   EMBL; CH471122; EAW56630.1; -; Genomic_DNA.
DR   EMBL; CH471122; EAW56631.1; -; Genomic_DNA.
DR   EMBL; BC032773; AAH32773.1; ALT_INIT; mRNA.
DR   EMBL; BC065272; AAH65272.1; -; mRNA.
DR   CCDS; CCDS53350.1; -. [Q8TAA9-2]
DR   CCDS; CCDS883.1; -. [Q8TAA9-1]
DR   RefSeq; NP_001165882.1; NM_001172411.1. [Q8TAA9-2]
DR   RefSeq; NP_001165883.1; NM_001172412.1. [Q8TAA9-1]
DR   RefSeq; NP_620409.1; NM_138959.2. [Q8TAA9-1]
DR   AlphaFoldDB; Q8TAA9; -.
DR   SMR; Q8TAA9; -.
DR   BioGRID; 123595; 267.
DR   CORUM; Q8TAA9; -.
DR   IntAct; Q8TAA9; 71.
DR   MINT; Q8TAA9; -.
DR   STRING; 9606.ENSP00000347672; -.
DR   TCDB; 9.B.369.1.1; the van gogh-like protein (vangl) family.
DR   iPTMnet; Q8TAA9; -.
DR   PhosphoSitePlus; Q8TAA9; -.
DR   SwissPalm; Q8TAA9; -.
DR   BioMuta; VANGL1; -.
DR   DMDM; 38258809; -.
DR   EPD; Q8TAA9; -.
DR   jPOST; Q8TAA9; -.
DR   MassIVE; Q8TAA9; -.
DR   MaxQB; Q8TAA9; -.
DR   PaxDb; 9606-ENSP00000347672; -.
DR   PeptideAtlas; Q8TAA9; -.
DR   ProteomicsDB; 73848; -. [Q8TAA9-1]
DR   ProteomicsDB; 73849; -. [Q8TAA9-2]
DR   Pumba; Q8TAA9; -.
DR   Antibodypedia; 20174; 220 antibodies from 31 providers.
DR   DNASU; 81839; -.
DR   Ensembl; ENST00000310260.7; ENSP00000310800.3; ENSG00000173218.15. [Q8TAA9-1]
DR   Ensembl; ENST00000355485.7; ENSP00000347672.2; ENSG00000173218.15. [Q8TAA9-1]
DR   Ensembl; ENST00000369509.1; ENSP00000358522.1; ENSG00000173218.15. [Q8TAA9-1]
DR   Ensembl; ENST00000369510.8; ENSP00000358523.3; ENSG00000173218.15. [Q8TAA9-2]
DR   GeneID; 81839; -.
DR   KEGG; hsa:81839; -.
DR   MANE-Select; ENST00000355485.7; ENSP00000347672.2; NM_138959.3; NP_620409.1.
DR   UCSC; uc001efv.1; human. [Q8TAA9-1]
DR   AGR; HGNC:15512; -.
DR   CTD; 81839; -.
DR   DisGeNET; 81839; -.
DR   GeneCards; VANGL1; -.
DR   HGNC; HGNC:15512; VANGL1.
DR   HPA; ENSG00000173218; Low tissue specificity.
DR   MalaCards; VANGL1; -.
DR   MIM; 182940; phenotype.
DR   MIM; 600145; phenotype.
DR   MIM; 610132; gene.
DR   neXtProt; NX_Q8TAA9; -.
DR   OpenTargets; ENSG00000173218; -.
DR   Orphanet; 3027; Caudal regression syndrome.
DR   PharmGKB; PA37971; -.
DR   VEuPathDB; HostDB:ENSG00000173218; -.
DR   eggNOG; KOG3814; Eukaryota.
DR   GeneTree; ENSGT00390000012496; -.
DR   HOGENOM; CLU_015742_1_0_1; -.
DR   InParanoid; Q8TAA9; -.
DR   OMA; MWHREND; -.
DR   OrthoDB; 2910983at2759; -.
DR   PhylomeDB; Q8TAA9; -.
DR   TreeFam; TF313467; -.
DR   PathwayCommons; Q8TAA9; -.
DR   Reactome; R-HSA-8980692; RHOA GTPase cycle.
DR   Reactome; R-HSA-9013026; RHOB GTPase cycle.
DR   Reactome; R-HSA-9013106; RHOC GTPase cycle.
DR   Reactome; R-HSA-9013148; CDC42 GTPase cycle.
DR   Reactome; R-HSA-9013149; RAC1 GTPase cycle.
DR   Reactome; R-HSA-9013404; RAC2 GTPase cycle.
DR   Reactome; R-HSA-9013405; RHOD GTPase cycle.
DR   Reactome; R-HSA-9013406; RHOQ GTPase cycle.
DR   Reactome; R-HSA-9013407; RHOH GTPase cycle.
DR   Reactome; R-HSA-9013408; RHOG GTPase cycle.
DR   Reactome; R-HSA-9013409; RHOJ GTPase cycle.
DR   Reactome; R-HSA-9013420; RHOU GTPase cycle.
DR   Reactome; R-HSA-9013423; RAC3 GTPase cycle.
DR   Reactome; R-HSA-9013424; RHOV GTPase cycle.
DR   Reactome; R-HSA-9035034; RHOF GTPase cycle.
DR   Reactome; R-HSA-9696264; RND3 GTPase cycle.
DR   Reactome; R-HSA-9696270; RND2 GTPase cycle.
DR   Reactome; R-HSA-9696273; RND1 GTPase cycle.
DR   SignaLink; Q8TAA9; -.
DR   BioGRID-ORCS; 81839; 17 hits in 1156 CRISPR screens.
DR   ChiTaRS; VANGL1; human.
DR   GenomeRNAi; 81839; -.
DR   Pharos; Q8TAA9; Tbio.
DR   PRO; PR:Q8TAA9; -.
DR   Proteomes; UP000005640; Chromosome 1.
DR   RNAct; Q8TAA9; Protein.
DR   Bgee; ENSG00000173218; Expressed in bronchial epithelial cell and 164 other cell types or tissues.
DR   ExpressionAtlas; Q8TAA9; baseline and differential.
DR   GO; GO:0016328; C:lateral plasma membrane; IEA:Ensembl.
DR   GO; GO:0005886; C:plasma membrane; IBA:GO_Central.
DR   GO; GO:0043473; P:pigmentation; IEA:Ensembl.
DR   GO; GO:0060071; P:Wnt signaling pathway, planar cell polarity pathway; NAS:ParkinsonsUK-UCL.
DR   InterPro; IPR009539; VANGL.
DR   PANTHER; PTHR20886; VANG-LIKE PROTEIN; 1.
DR   PANTHER; PTHR20886:SF8; VANG-LIKE PROTEIN 1; 1.
DR   Pfam; PF06638; Strabismus; 1.
DR   PIRSF; PIRSF007991; Strabismus; 1.
DR   Genevisible; Q8TAA9; HS.
PE   1: Evidence at protein level;
KW   Alternative splicing; Cell membrane; Disease variant; Membrane;
KW   Phosphoprotein; Reference proteome; Transmembrane; Transmembrane helix.
FT   CHAIN           1..524
FT                   /note="Vang-like protein 1"
FT                   /id="PRO_0000186193"
FT   TOPO_DOM        1..117
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        118..138
FT                   /note="Helical; Name=1"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        139..151
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        152..172
FT                   /note="Helical; Name=2"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        173..182
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        183..203
FT                   /note="Helical; Name=3"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        204..222
FT                   /note="Extracellular"
FT                   /evidence="ECO:0000255"
FT   TRANSMEM        223..243
FT                   /note="Helical; Name=4"
FT                   /evidence="ECO:0000255"
FT   TOPO_DOM        244..524
FT                   /note="Cytoplasmic"
FT                   /evidence="ECO:0000255"
FT   REGION          1..85
FT                   /note="Disordered"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        1..17
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        18..42
FT                   /note="Basic and acidic residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        43..62
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   COMPBIAS        71..85
FT                   /note="Polar residues"
FT                   /evidence="ECO:0000256|SAM:MobiDB-lite"
FT   MOD_RES         86
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Z96"
FT   MOD_RES         88
FT                   /note="Phosphoserine"
FT                   /evidence="ECO:0000250|UniProtKB:Q80Z96"
FT   VAR_SEQ         67..68
FT                   /note="Missing (in isoform 2)"
FT                   /evidence="ECO:0000303|Ref.3"
FT                   /id="VSP_008742"
FT   VARIANT         25
FT                   /note="E -> K (in dbSNP:rs61734296)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062321"
FT   VARIANT         83
FT                   /note="S -> L (in NTD; uncertain significance;
FT                   dbSNP:rs146695372)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062322"
FT   VARIANT         116
FT                   /note="A -> T (in dbSNP:rs4839469)"
FT                   /evidence="ECO:0000269|PubMed:15952208"
FT                   /id="VAR_027143"
FT   VARIANT         153
FT                   /note="F -> S (in NTD; uncertain significance)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062323"
FT   VARIANT         175
FT                   /note="R -> Q (in dbSNP:rs201441696)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062324"
FT   VARIANT         181
FT                   /note="R -> Q (in NTD; uncertain significance;
FT                   dbSNP:rs761123443)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062325"
FT   VARIANT         202
FT                   /note="L -> F (in NTD; uncertain significance)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062326"
FT   VARIANT         239
FT                   /note="V -> I (in SDAM; abolishes ability to interact with
FT                   DVL1, DVL2 and DVL3; dbSNP:rs121918218)"
FT                   /evidence="ECO:0000269|PubMed:17409324"
FT                   /id="VAR_035209"
FT   VARIANT         251
FT                   /note="T -> M (in dbSNP:rs201630629)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062327"
FT   VARIANT         274
FT                   /note="R -> Q (in NTD; does not abolish ability to interact
FT                   with DVL1, DVL2 and DVL3; dbSNP:rs121918219)"
FT                   /evidence="ECO:0000269|PubMed:17409324"
FT                   /id="VAR_035210"
FT   VARIANT         290
FT                   /note="Y -> H (in dbSNP:rs145309218)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062328"
FT   VARIANT         328
FT                   /note="M -> T (in NTD; does not abolish ability to interact
FT                   with DVL1, DVL2 and DVL3; dbSNP:rs121918220)"
FT                   /evidence="ECO:0000269|PubMed:17409324"
FT                   /id="VAR_035211"
FT   VARIANT         347
FT                   /note="E -> A (in dbSNP:rs34059106)"
FT                   /id="VAR_035435"
FT   VARIANT         404
FT                   /note="A -> S (in NTD; uncertain significance;
FT                   dbSNP:rs775571796)"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062329"
FT   VARIANT         468
FT                   /note="D -> E"
FT                   /evidence="ECO:0000269|PubMed:19319979"
FT                   /id="VAR_062330"
SQ   SEQUENCE   524 AA;  59975 MW;  65CB263D26274585 CRC64;
     MDTESTYSGY SYYSSHSKKS HRQGERTRER HKSPRNKDGR GSEKSVTIQP PTGEPLLGND
     STRTEEVQDD NWGETTTAIT GTSEHSISQE DIARISKDME DSVGLDCKRY LGLTVASFLG
     LLVFLTPIAF ILLPPILWRD ELEPCGTICE GLFISMAFKL LILLIGTWAL FFRKRRADMP
     RVFVFRALLL VLIFLFVVSY WLFYGVRILD SRDRNYQGIV QYAVSLVDAL LFIHYLAIVL
     LELRQLQPMF TLQVVRSTDG ESRFYSLGHL SIQRAALVVL ENYYKDFTIY NPNLLTASKF
     RAAKHMAGLK VYNVDGPSNN ATGQSRAMIA AAARRRDSSH NELYYEEAEH ERRVKKRKAR
     LVVAVEEAFI HIQRLQAEEQ QKAPGEVMDP REAAQAIFPS MARALQKYLR ITRQQNYHSM
     ESILQHLAFC ITNGMTPKAF LERYLSAGPT LQYDKDRWLS TQWRLVSDEA VTNGLRDGIV
     FVLKCLDFSL VVNVKKIPFI ILSEEFIDPK SHKFVLRLQS ETSV
//