Variant position: 143 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 LQQHNIPQREVVDTTGLNQS HLSQHLNKGTPMKTQKRAALY
Mouse LQQHNIPQREVVDTTGLNQS HLSQHLNKGTPMKTQKRAALY
Rat LQQHNIPQREVVDTTGLNQS HLSQHLNKGTPMKTQKRAALY
Chicken LQQHNIPQREVVDTTGLNQS HLSQHLNKGTPMKTQKRAALY
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
143 – 149 Interaction with DNA
120 – 631 Missing. In isoform 8.
127 – 127 N -> W. Abolishes transcription activation.
132 – 132 E -> K. Abolishes transcription activation.
141 – 149
Novel MODY3 mutations in the hepatocyte nuclear factor-1alpha gene: evidence for a hyperexcitability of pancreatic beta-cells to intravenous secretagogues in a glucose-tolerant carrier of a P447L mutation.
Hansen T.; Eiberg H.; Rouard M.; Vaxillaire M.; Moeller A.M.; Rasmussen S.K.; Fridberg M.; Urhammer S.A.; Holst J.J.; Almind K.; Echwald S.M.; Hansen L.; Bell G.I.; Pedersen O.;
Cited for: VARIANTS MODY3 ASN-128; TYR-143 AND LEU-447;
Allelic drop-out in exon 2 of the hepatocyte nuclear factor-1alpha gene hinders the identification of mutations in three families with maturity-onset diabetes of the young.
Ellard S.; Bulman M.P.; Frayling T.M.; Allen L.I.S.; Dronsfield M.J.; Tack C.J.; Hattersley A.T.;
Cited for: VARIANTS MODY3 GLU-117 AND TYR-143;
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