Variant position: 145 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 RGFRESAFAYAIAAAGVVHA VSNACALGKLKACGCDASRRG
Mouse RGFRESAFAYAIAAAGVVHA VSNACALGKLKACGCDASRRG
Zebrafish RGFRESAFAYAIAAAGVVHA VSNACAMGKLKACGCDEKRRG
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
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;
Mutations in WNT10A are present in more than half of isolated hypodontia cases.
van den Boogaard M.J.; Creton M.; Bronkhorst Y.; van der Hout A.; Hennekam E.; Lindhout D.; Cune M.; Ploos van Amstel H.K.;
J. Med. Genet. 49:327-331(2012)
Cited for: VARIANTS STHAG4 LYS-95; GLN-128; MET-145; TRP-163; CYS-277 AND LYS-306;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.