Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13647: Variant p.Glu477Lys

Keratin, type II cytoskeletal 5
Gene: KRT5
Feedback?
Variant information Variant position: help 477 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glutamate (E) to Lysine (K) at position 477 (E477K, p.Glu477Lys). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help In EBS2A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 477 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 590 The length of the canonical sequence.
Location on the sequence: help MNTKLALDVEIATYRKLLEG E ECRLSGEGVGPVNISVVTSS 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.
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 590 Keratin, type II cytoskeletal 5
Domain 168 – 481 IF rod
Region 339 – 477 Coil 2



Literature citations
Primers for exon-specific amplification of the KRT5 gene: identification of novel and recurrent mutations in epidermolysis bullosa simplex patients.
Stephens K.; Ehrlich P.; Weaver M.; Le R.; Spencer A.; Sybert V.P.;
J. Invest. Dermatol. 108:349-353(1997)
Cited for: VARIANTS EBS2A SER-176; SER-179 AND LYS-477; 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 EBS2C GLU-404 AND ASP-438; VARIANTS EBS2A 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 EBS2C LEU-25; VAL-158 AND SER-352; VARIANTS EBS2B ASP-143; MET-186; LEU-186; PRO-191 AND ASP-517; VARIANTS EBS2A SER-176; LYS-475 AND LYS-477; VARIANT EBS2F LEU-25; Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
Garcia M.; Santiago J.L.; Terron A.; Hernandez-Martin A.; Vicente A.; Fortuny C.; De Lucas R.; Lopez J.C.; Cuadrado-Corrales N.; Holguin A.; Illera N.; Duarte B.; Sanchez-Jimeno C.; Llames S.; Garcia E.; Ayuso C.; Martinez-Santamaria L.; Castiglia D.; De Luca N.; Torrelo A.; Mechan D.; Baty D.; Zambruno G.; Escamez M.J.; Del Rio M.;
Br. J. Dermatol. 165:683-692(2011)
Cited for: VARIANTS EBS2C GLU-186; LYS-193; PRO-321; VAL-328 AND THR-428; VARIANTS EBS2A SER-165 AND LYS-477; VARIANT EBS2F LEU-25; VARIANT EBS2B PRO-463;
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.