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UniProtKB/Swiss-Prot P13647: Variant p.Glu477Lys

Keratin, type II cytoskeletal 5
Gene: KRT5
Variant information

Variant position:  477
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  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

Involvement in disease:  Epidermolysis bullosa simplex, Dowling-Meara type (DM-EBS) [MIM:131760]: A severe form of intraepidermal epidermolysis bullosa characterized by generalized herpetiform blistering, milia formation, dystrophic nails, and mucous membrane involvement. {ECO:0000269|PubMed:10730767, ECO:0000269|PubMed:12655565, ECO:0000269|PubMed:1372711, ECO:0000269|PubMed:16786515, ECO:0000269|PubMed:16882168, ECO:0000269|PubMed:21623745, ECO:0000269|PubMed:8757772, ECO:0000269|PubMed:9036937, ECO:0000269|PubMed:9406827, ECO:0000269|PubMed:9989794, ECO:0000269|Ref.18}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In DM-EBS.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  477
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:   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.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         MNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTSS

Chimpanzee                    MNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTSS

Mouse                         MNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTNS

Rat                           MNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTNS

Bovine                        MNTKLALDVEIATYRKLLEGEECRLSGEGVGPVNISVVTNT

Xenopus laevis                MNVKLALDIEIATYRKLLEGEENRIT-EGPGPVSVSVV-NS

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.

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 DM-EBS 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 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;

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 WC-EBS GLU-186; LYS-193; PRO-321; VAL-328 AND THR-428; VARIANTS DM-EBS SER-165 AND LYS-477; VARIANT MP-EBS LEU-25; VARIANT K-EBS 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.