Variant position: 463 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:
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 KQDMARLLREYQELMNTKLA LDVEIATYRKLLEGEECRLSG
Chimpanzee KQDMARLLREYQELMNTKLA LDVEIATYRKLLEGEECRLSG
Mouse KQDMARLLREYQELMNTKLA LDVEIATYRKLLEGEECRLSG
Rat KQDMARLLREYQELMNTKLA LDVEIATYRKLLEGEECRLSG
Bovine KQDMARLLREYQELMNTKLA LDVEIATYRKLLEGEECRLSG
Xenopus laevis KQDMARQLREYQELMNVKLA LDIEIATYRKLLEGEENRIT-
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.
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Kobner type of epidermolysis bullosa simplex.
Dong W.; Ryynaenen M.; Uitto J.;
Hum. Mutat. 2:94-102(1993)
Cited for: VARIANT K-EBS PRO-463;
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;
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.