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-TP SVSRTSFTSVSRSGGGGGGG
Chimpanzee SSVSFRSGGSRSFSTASAI-TP SVSRTSFTSVSRSGGGGGG
Mouse SSVSFRSGGSRSFSAASAI-TP SVSRTSFSSVSRSGGGGG-
Rat SSVSFRSGGSRSFSAASAI-TP SVSRTTFSSVSRSGGGGG-
Bovine STVSFRSGGGRSFSTASAI-TP SVSRTSFTSVSRSGGGGGG
Xenopus laevis --MAFNSRQS-SFSTRSAVPNA GFSQMRISSTRSSSGGSG-
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
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.