Variant position: 328 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 DAELSQMQTHVSDTSVVLSM DNNRNLDLDSIIAEVKAQYEE
Chimpanzee DAELSQMQTHVSDTSVVLSM DNNRNLDLDSIIAEVKAQYEE
Mouse DAELSQMQTHVSDTSVVLSM DNNRSLDLDSIIAEVKAQYED
Rat DAELSQMQTHVSDTSVVLSM DNNRSLDLDSIIAEVKAQYED
Bovine DAELSQMQTHVSDTSVVLSM DNNRSLDLDSIIAEVKAQYED
Xenopus laevis EAELRELQEQISDTSVVLSM DNNRALDMDSIIAEVKAQYED
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.
Epidermolysis bullosa simplex (Weber-Cockayne) associated with a novel missense mutation of Asp328 to Val in linker 12 domain of keratin 5.
Matsuki M.; Hashimoto K.; Yoshikawa K.; Yasuno H.; Yamanishi K.;
Hum. Mol. Genet. 4:1999-2000(1995)
Cited for: VARIANT WC-EBS VAL-328;
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;
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