VANG1_HUMAN
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 03-AUG-2022, entry version 156.
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; 235.
DR CORUM; Q8TAA9; -.
DR IntAct; Q8TAA9; 52.
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; Q8TAA9; -.
DR PeptideAtlas; Q8TAA9; -.
DR PRIDE; Q8TAA9; -.
DR ProteomicsDB; 73848; -. [Q8TAA9-1]
DR ProteomicsDB; 73849; -. [Q8TAA9-2]
DR Antibodypedia; 20174; 193 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 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 Orphanet; 268392; Cervical spina bifida aperta.
DR Orphanet; 268762; Cervical spina bifida cystica.
DR Orphanet; 268397; Cervicothoracic spina bifida aperta.
DR Orphanet; 268766; Cervicothoracic spina bifida cystica.
DR Orphanet; 268388; Lumbosacral spina bifida aperta.
DR Orphanet; 268758; Lumbosacral spina bifida cystica.
DR Orphanet; 268384; Thoracolumbosacral spina bifida aperta.
DR Orphanet; 268752; Thoracolumbosacral spina bifida cystica.
DR Orphanet; 268377; Total spina bifida aperta.
DR Orphanet; 268748; Total spina bifida cystica.
DR Orphanet; 268740; Upper thoracic spina bifida aperta.
DR Orphanet; 268770; Upper thoracic spina bifida cystica.
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 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 1078 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 162 other tissues.
DR ExpressionAtlas; Q8TAA9; baseline and differential.
DR Genevisible; Q8TAA9; HS.
DR GO; GO:0016021; C:integral component of membrane; IEA:UniProtKB-KW.
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; PTHR20886; 1.
DR Pfam; PF06638; Strabismus; 1.
DR PIRSF; PIRSF007991; Strabismus; 1.
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; unknown pathological 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; unknown pathological 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; unknown pathological significance;
FT dbSNP:rs761123443)"
FT /evidence="ECO:0000269|PubMed:19319979"
FT /id="VAR_062325"
FT VARIANT 202
FT /note="L -> F (in NTD; unknown pathological 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; unknown pathological 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
