Variant position: 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 472 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 GFGGGFAG--GDGLLVGSEKVT MQNLNDRLASYLDKVRALEEA
Mouse GLGGGLGGGIGDGLLVGSEKVT MQNLNDRLATYLDKVRALE
Rat GIGSGFGGGLGDGLLVGSEKVT MQNLNDRLATYLDKVRALE
Chicken GFGGGFGG--GDGILPAGEKET MQNLNDRLAAYLDKVRALE
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.
Severe palmo-plantar hyperkeratosis in Dowling-Meara epidermolysis bullosa simplex caused by a mutation in the keratin 14 gene (KRT14).
Shemanko C.S.; Mellerio J.E.; Tidman M.J.; Lane E.B.; Eady R.A.J.;
J. Invest. Dermatol. 111:893-895(1998)
Cited for: VARIANT DM-EBS THR-119;
Keratin 14 point mutations at codon 119 of helix 1A resulting in different epidermolysis bullosa simplex phenotypes.
Cummins R.E.; Klingberg S.; Wesley J.; Rogers M.; Zhao Y.; Murrell D.F.;
J. Invest. Dermatol. 117:1103-1107(2001)
Cited for: VARIANT DM-EBS THR-119; VARIANT K-EBS VAL-119;
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