Variant position: 122 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 GGFAG--GDGLLVGSEKVTMQN LNDRLASYLDKVRALEEANAD
Mouse GGLGGGIGDGLLVGSEKVTMQN LNDRLATYLDKVRALEEAN
Rat SGFGGGLGDGLLVGSEKVTMQN LNDRLATYLDKVRALEEAN
Chicken GGFGG--GDGILPAGEKETMQN LNDRLAAYLDKVRALEEAN
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.
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.
Coulombe P.A.; Hutton M.E.; Letai A.; Hebert A.; Paller A.S.; Fuchs E.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126; VARIANTS DM-EBS PHE-122; CYS-125 AND HIS-125;
A novel mutation of Leu122 to Phe at a highly conserved hydrophobic residue in the helix initiation motif of keratin 14 in epidermolysis bullosa simplex.
Yamanishi K.; Matsuki M.; Konishi K.; Yasuno H.;
Hum. Mol. Genet. 3:1171-1172(1994)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 118-126; VARIANT K-EBS PHE-122;
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