Variant position: 131 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 DPWRVAKMVKSYLQQHNIPQ REVVDTTGLNQSHLSQHLNKG
Mouse DPWRVAKMVKSYLQQHNIPQ REVVDTTGLNQSHLSQHLNKG
Rat DPWRVAKMVKSYLQQHNIPQ REVVDTTGLNQSHLSQHLNKG
Chicken DPWRVAKMVKSYLQQHNIPQ REVVDTTGLNQSHLSQHLNKG
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
130 – 132 Interaction with DNA
120 – 631 Missing. In isoform 8.
127 – 127 N -> W. Abolishes transcription activation.
132 – 132 E -> K. Abolishes transcription activation.
130 – 137
Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.
Iwasaki N.; Oda N.; Ogata M.; Hara M.; Hinokio Y.; Oda Y.; Yamagata K.; Kanematsu S.; Ohgawara H.; Omori Y.; Bell G.I.;
Cited for: VARIANTS MODY3 HIS-12; GLN-131; GLN-205 AND CYS-263; VARIANT NIDDM ASP-191;
Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
Kaisaki P.J.; Menzel S.; Lindner T.; Oda N.; Rjasanowski I.; Sahm J.; Meincke G.; Schulze J.; Schmechel H.; Petzold C.; Ledermann H.M.; Sachse G.; Boriraj V.V.; Menzel R.; Kerner W.; Turner R.C.; Yamagata K.; Bell G.I.;
Cited for: VARIANTS MODY3 GLN-131; GLN-229; GLY-241 AND HIS-272;
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