Variant position: 620 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 SSDSSNGQSHLLPSNHSVIE TFISTQMASSSQ
Mouse SSDS-NGHSHLLPSNHSVIE TFISTQMASSSQ
Rat SSDS-NGHSHLLPSNHGVIE TFISTQMASSSQ
Chicken SSDSTNSHSQLLPSTHNVIE TFISTQMASSTQ
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
120 – 631 Missing. In isoform 8.
248 – 631 Missing. In isoform 5.
279 – 631 Missing. In isoform 4.
521 – 631 Missing. In isoform 6.
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;
Non-penetrance in a MODY 3 family with a mutation in the hepatic nuclear factor 1alpha gene: implications for predictive testing.
Miedzybrodzka Z.; Hattersley A.T.; Ellard S.; Pearson D.; de Silva D.; Harvey R.; Haites N.;
Eur. J. Hum. Genet. 7:729-732(1999)
Cited for: VARIANT MODY3 ILE-620;
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.