Variant position: 132 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 494 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 ILSGNDGGLLSGSEKETMQN LNDRLASYLDKVRALEEANTE
Mouse IFSGNDGGLLSGSEKETMQN LNDRLASYLGKVRSLEEANAE
Rat IFSGNDGGLLSGSEKETMQN LNDRLASYLGKVRALEEANAE
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.
Keratin 12 missense mutation induces the unfolded protein response and apoptosis in Meesmann epithelial corneal dystrophy.
Allen E.H.; Courtney D.G.; Atkinson S.D.; Moore J.E.; Mairs L.; Poulsen E.T.; Schiroli D.; Maurizi E.; Cole C.; Hickerson R.P.; James J.; Murgatroyd H.; Smith F.J.; MacEwen C.; Enghild J.J.; Nesbit M.A.; Leslie Pedrioli D.M.; McLean W.H.; Moore C.B.;
Hum. Mol. Genet. 25:1176-1191(2016)
Cited for: FUNCTION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANT MECD1 PRO-132;
Severe Meesmann's epithelial corneal dystrophy phenotype due to a missense mutation in the helix-initiation motif of keratin 12.
Hassan H.; Thaung C.; Ebenezer N.D.; Larkin G.; Hardcastle A.J.; Tuft S.J.;
Cited for: VARIANT MECD1 PRO-132;
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