Variant position: 475 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:
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 ELMNTKLALDVEIATYRKLL EGEECRLSGEGVGPVNISVVT
Chimpanzee ELMNTKLALDVEIATYRKLL EGEECRLSGEGVGPVNISVVT
Mouse ELMNTKLALDVEIATYRKLL EGEECRLSGEGVGPVNISVVT
Rat ELMNTKLALDVEIATYRKLL EGEECRLSGEGVGPVNISVVT
Bovine ELMNTKLALDVEIATYRKLL EGEECRLSGEGVGPVNISVVT
Xenopus laevis ELMNVKLALDIEIATYRKLL EGEENRIT-EGPGPVSVSVV-
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.
Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations.
Schuilenga-Hut P.H.L.; Vlies P.; Jonkman M.F.; Waanders E.; Buys C.H.C.M.; Scheffer H.;
Hum. Mutat. 21:447-447(2003)
Cited for: VARIANTS WC-EBS GLU-404 AND ASP-438; VARIANTS DM-EBS LYS-475 AND LYS-477;
Epidermolysis bullosa simplex in Japanese and Korean patients: genetic studies in 19 cases.
Yasukawa K.; Sawamura D.; Goto M.; Nakamura H.; Jung S.-Y.; Kim S.-C.; Shimizu H.;
Br. J. Dermatol. 155:313-317(2006)
Cited for: VARIANTS WC-EBS LEU-25; VAL-158 AND SER-352; VARIANTS K-EBS ASP-143; MET-186; LEU-186; PRO-191 AND ASP-517; VARIANTS DM-EBS SER-176; LYS-475 AND LYS-477; VARIANT MP-EBS LEU-25;
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.