Variant position: 122 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 AVVETLLQEDPWRVAKMVKS YLQQHNIPQREVVDTTGLNQS
Mouse AVVESLLQEDPWRVAKMVKS YLQQHNIPQREVVDTTGLNQS
Rat AVVESLLQEDPWRVAKMVKS YLQQHNIPQREVVDTTGLNQS
Chicken AVVERLLQEDPWRVAKMVKS YLQQHNIPQREVVDTTGLNQS
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.
127 – 127 N -> W. Abolishes transcription activation.
132 – 132 E -> K. Abolishes transcription activation.
112 – 125
Identification of nine novel mutations in the hepatocyte nuclear factor 1 alpha gene associated with maturity-onset diabetes of the young (MODY3).
Vaxillaire M.; Rouard M.; Yamagata K.; Oda N.; Kaisaki P.J.; Boriraj V.V.; Chevre J.-C.; Boccio V.; Cox R.D.; Lathrop G.M.; Dussoix P.; Philippe J.; Timsit J.; Charpentier G.; Velho G.; Bell G.I.; Froguel P.;
Hum. Mol. Genet. 6:583-586(1997)
Cited for: VARIANTS MODY3 CYS-122; PHE-142 AND GLN-159;
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