Sequence information
Variant position: 517 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:
SVSSGYGSGSGYGGGLGGGL
G GGLGGGLAGGSSGSYYSSSS
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 SVSSGYGSGS--GYGGGLGGGLG GGLGGGLAGGSSG------------SYYSSSS
Chimpanzee SVSSGYGSGS--GYGGGLGGGLG GGLGGSLAGGGSG-----
Mouse SVSSGYGGGSSIGVGSGFGGGLG SGFAGGL-----G-----
Rat SLSSGYGGRSNIGYGSGLGSGIG -GFASDI-----G-----
Bovine TVSSGYGGGS--GFGGGLGGGLG GGLGGGLGGGLGGGLGSG
Xenopus laevis STSSSMGGGSSSGFGSGYSGGSS YGAG--------------
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 – 590
Keratin, type II cytoskeletal 5
Region
478 – 590
Tail
Literature citations
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;
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.