Sequence information
Variant position: 198 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 391 The length of the canonical sequence.
Location on the sequence:
KAGPPGPNGPPGPPGPPGPQ
G PPGIPGIPGIPGTTVMGPPG
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 KAGPPGPNGPPGPPGPPGPQG PPGIPGIPGIPGTTVMGPPG
Mouse KAGPPGPNGPPGPPGPPGPQG PPGIPGIPGIPGTTVMGPPG
Bovine KAGPPGPNGPPGPPGPPGPQG PPGIPGIPGIPGTTVMGPPG
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
Chain
1 – 391
Ectodysplasin-A, membrane form
Chain
160 – 391
Ectodysplasin-A, secreted form
Topological domain
63 – 391
Extracellular
Domain
180 – 229
Collagen-like
Alternative sequence
136 – 391
Missing. In isoform 2.
Alternative sequence
143 – 391
Missing. In isoform 5.
Alternative sequence
148 – 391
Missing. In isoform 4, isoform 6 and isoform 7.
Literature citations
Pitfalls in clinical diagnosis of female carriers of X-linked hypohidrotic ectodermal dysplasia.
Vincent M.-C.; Cossee M.; Vabres P.; Stewart F.; Bonneau D.; Calvas P.;
Arch. Dermatol. 138:1256-1258(2002)
Cited for: VARIANTS XHED ALA-198 AND MET-378;
Disclaimer:
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.