Variant position: 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 417 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human SWEWGGCSPDMGFGERFSKD FLDSREPHRDIHARMRLHNNR
Mouse SWEWGGCSPDVGFGERFSKD FLDSREPHRDIHARMRLHNNR
Zebrafish SWEWGGCSPNVEYGERFSKD FLDSRETYRDIHSRMRLHNNR
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
36 – 417 Protein Wnt-10a
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.
Bohring A.; Stamm T.; Spaich C.; Haase C.; Spree K.; Hehr U.; Hoffmann M.; Ledig S.; Sel S.; Wieacker P.; Ropke A.;
Am. J. Hum. Genet. 85:97-105(2009)
Cited for: VARIANTS OODD GLN-128 AND ILE-228; INVOLVEMENT IN SSPS;
Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases.
Cluzeau C.; Hadj-Rabia S.; Jambou M.; Mansour S.; Guigue P.; Masmoudi S.; Bal E.; Chassaing N.; Vincent M.C.; Viot G.; Clauss F.; Maniere M.C.; Toupenay S.; Le Merrer M.; Lyonnet S.; Cormier-Daire V.; Amiel J.; Faivre L.; de Prost Y.; Munnich A.; Bonnefont J.P.; Bodemer C.; Smahi A.;
Hum. Mutat. 32:70-72(2011)
Cited for: INVOLVEMENT IN STHAG4; VARIANTS STHAG4 TYR-143; MET-145 AND ILE-228; VARIANT CYS-360;
WNT10A and isolated hypodontia.
Kantaputra P.; Sripathomsawat W.;
Am. J. Med. Genet. A 155:1119-1122(2011)
Cited for: VARIANTS STHAG4 ASN-217 AND ILE-228;
WNT10A mutations account for 1/4 of population-based isolated oligodontia and show phenotypic correlations.
Arzoo P.S.; Klar J.; Bergendal B.; Norderyd J.; Dahl N.;
Am. J. Med. Genet. A 164A:353-359(2014)
Cited for: VARIANTS STHAG4 TRP-70; 107-CYS--LYS-417 DEL; CYS-113; SER-213; CYS-223 AND ILE-228;
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