Variant position: 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 474 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 SIRILDELVLPFQELQIDDN EYAYLKAIIFFDPDAKGLSDP
Mouse SIRILDELVLPFQELQIDDN EYACLKAIIFFDPDAKGLSDP
Rat SIRILDELVLPFQELQIDDN EYACLKAIIFFDPDAKGLSDP
Xenopus laevis AVRILDELVLPFQELQIDDN EYACLKAIIFFDPDAKGLSDP
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.
Type Positions Description
1 – 474 Hepatocyte nuclear factor 4-alpha
283 – 294
A missense mutation in the hepatocyte nuclear factor 4 alpha gene in a UK pedigree with maturity-onset diabetes of the young.
Bulman M.P.; Dronsfield M.J.; Frayling T.M.; Appleton M.; Bain S.C.; Ellard S.; Hattersley A.T.;
Cited for: VARIANT MODY1 GLN-285;
Functional characterization of the MODY1 gene mutations HNF4(R127W), HNF4(V255M), and HNF4(E276Q).
Navas M.A.; Munoz-Elias E.J.; Kim J.; Shih D.; Stoffel M.;
Cited for: CHARACTERIZATION OF VARIANT MET-264; CHARACTERIZATION OF VARIANT MODY1 GLN-285;
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