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UniProtKB/Swiss-Prot P13647: Variant p.Pro25Leu

Keratin, type II cytoskeletal 5
Gene: KRT5
Variant information

Variant position:  25
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Proline (P) to Leucine (L) at position 25 (P25L, p.Pro25Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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:  In MP-EBS.
Any additional useful information about the variant.

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



Sequence information

Variant position:  25
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:   SSVSFRSGGSRSFSTASAIT  P SVSRTSFTSVSRSGGGGGGG
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                         SSVSFRSGGSRSFSTASAI-TPSVSRTSFTSVSRSGGGGGGG

Chimpanzee                    SSVSFRSGGSRSFSTASAI-TPSVSRTSFTSVSRSGGGGGG

Mouse                         SSVSFRSGGSRSFSAASAI-TPSVSRTSFSSVSRSGGGGG-

Rat                           SSVSFRSGGSRSFSAASAI-TPSVSRTTFSSVSRSGGGGG-

Bovine                        STVSFRSGGGRSFSTASAI-TPSVSRTSFTSVSRSGGGGGG

Xenopus laevis                --MAFNSRQS-SFSTRSAVPNAGFSQMRISSTRSSSGGSG-

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
Region 1 – 167 Head
Modified residue 5 – 5 Phosphoserine
Modified residue 8 – 8 Phosphoserine
Modified residue 16 – 16 Phosphoserine
Modified residue 21 – 21 Phosphoserine
Modified residue 26 – 26 Phosphoserine
Modified residue 36 – 36 Phosphoserine


Literature citations

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation.
Uttam J.; Hutton M.E.; Coulombe P.A.; Anton-Lamprecht I.; Yu Q.-C.; Gedde-Dahl T. Jr.; Fine J.-D.; Fuchs E.;
Proc. Natl. Acad. Sci. U.S.A. 93:9079-9084(1996)
Cited for: VARIANT MP-EBS LEU-25;

Epidermolysis bullosa simplex with mottled pigmentation: clinical aspects and confirmation of the P24L mutation in the KRT5 gene in further patients.
Moog U.; de Die-Smulders C.E.M.; Scheffer H.; van der Vlies P.; Henquet C.J.M.; Jonkman M.F.;
Am. J. Med. Genet. 86:376-379(1999)
Cited for: VARIANT MP-EBS LEU-25;

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.