Variant position: 159 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 631 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 LNQSHLSQHLNKGTPMKTQK RAALYTWYVRKQREVAQQFTH
Mouse LNQSHLSQHLNKGTPMKTQK RAALYTWYVRKQREVAQQFTH
Rat LNQSHLSQHLNKGTPMKTQK RAALYTWYVRKQREVAQQFTH
Chicken LNQSHLSQHLNKGTPMKTQK RAALYTWYVRKQREVAQQFTH
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 – 631 Hepatocyte nuclear factor 1-alpha
87 – 182 POU-specific atypical
120 – 631 Missing. In isoform 8.
177 – 177 F -> S. No significant effect on transcription activation.
156 – 169
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Frayling T.M.; Bulman M.P.; Ellard S.; Appleton M.; Dronsfield M.J.; Mackie A.D.; Baird J.D.; Kaisaki P.J.; Yamagata K.; Bell G.I.; Bain S.C.; Hattersley A.T.;
Cited for: VARIANTS MODY3 THR-129; TRP-131; TRP-159; LEU-519 AND ILE-620;
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
Chevre J.-C.; Hani E.H.; Boutin P.; Vaxillaire M.; Blanche H.; Vionnet N.; Pardini V.C.; Timsit J.; Larger E.; Charpentier G.; Beckers D.; Maes M.; Bellanne-Chantelot C.; Velho G.; Froguel P.;
Cited for: VARIANTS MODY3 ASP-31; TRP-159; THR-161; TRP-200 AND TRP-271;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.