Variant position: 110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 448 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 HKDCEGFFRATVLTPGDMEN DAECGPCLPGYYMLENRPRNI
Mouse HKDCEGFFRATVLTPGDMEN DAECGPCLPGYYMLENRPRNI
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
27 – 448 Tumor necrosis factor receptor superfamily member EDAR
27 – 187 Extracellular
73 – 113 TNFR-Cys 2
93 – 113
Mutations in EDAR account for one-quarter of non-ED1-related hypohidrotic ectodermal dysplasia.
Chassaing N.; Bourthoumieu S.; Cossee M.; Calvas P.; Vincent M.-C.;
Hum. Mutat. 27:255-259(2006)
Cited for: VARIANTS ECTD10B TYR-47; HIS-89; ALA-110; ARG-148; PHE-377; MET-403; PRO-413; THR-418; GLN-420 AND CYS-434;
Mutation screening of the ectodysplasin-A receptor gene EDAR in hypohidrotic ectodermal dysplasia.
van der Hout A.H.; Oudesluijs G.G.; Venema A.; Verheij J.B.G.M.; Mol B.G.J.; Rump P.; Brunner H.G.; Vos Y.J.; van Essen A.J.;
Eur. J. Hum. Genet. 16:673-679(2008)
Cited for: VARIANTS ECTD10B HIS-89 AND ALA-110; VARIANT ECTD10A GLN-420;
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.