Sequence information
Variant position: 311 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 590 The length of the canonical sequence.
Location on the sequence:
AKVDALMDEINFMKMFFDAE
L SQMQTHVSDTSVVLSMDNNR
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 AKVDALMDEINFMKMFFDAEL SQMQTHVSDTSVVLSMDNNR
Chimpanzee AKVDALMDEINFMKMFFDAEL SQMQTHVSDTSVVLSMDNNR
Mouse ARVDALMDEINFMKMFFDAEL SQMQTHVSDTSVVLSMDNNR
Rat AKVDALMDEINFMKMFFDAEL SQMQTHVSDTSVVLSMDNNR
Bovine AKVDALMDEINFMKMFFDAEL SQMQTHVSDTSVVLSMDNNR
Xenopus laevis SKMEGLTDEINFLRALYEAEL RELQEQISDTSVVLSMDNNR
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.
Literature citations
Epidermolysis bullosa simplex in Israel: clinical and genetic features.
Ciubotaru D.; Bergman R.; Baty D.; Indelman M.; Pfendner E.; Petronius D.; Moualem H.; Kanaan M.; Ben Amitai D.; McLean W.H.I.; Uitto J.; Sprecher E.;
Arch. Dermatol. 139:498-505(2003)
Cited for: VARIANTS WC-EBS LYS-167; PRO-311 AND ASP-324;
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.