Variant position: 205 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 LIEEPTGDELPTKKGRRNRF KWGPASQQILFQAYERQKNPS
Mouse LIEEPTGDELPTKKGRRNRF KWGPASQQILFQAYERQKNPS
Rat LIEEPTGDELPTKKGRRNRF KWGPASQQILFQAYERQKNPS
Chicken LTEEPMGDDLPTKKGRRNRF KWGPASQQILFQAYERQKNPS
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
199 – 279 Homeobox; HNF1-type
183 – 205 Disordered
203 – 206 Interaction with DNA
197 – 205 Nuclear localization signal
120 – 631 Missing. In isoform 8.
176 – 278 QFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFR -> RRNASREGCPHHRHRGWAPTSSRRCVSTTGLPTGAKKKPSGTSWPWTRTAGPPQGQARDLRCPLTAPLACLHLPSPPVRSTVCAMDSLRPVRLQKYPQAAAVP. In isoform 4.
186 – 186 I -> Q. No effect on transcription activation.
190 – 190 T -> Q. No effect on transcription activation.
202 – 202 N -> D. Reduces transcription activation by 70%.
Diabetes mutations delineate an atypical POU domain in HNF-1alpha.
Chi Y.I.; Frantz J.D.; Oh B.C.; Hansen L.; Dhe-Paganon S.; Shoelson S.E.;
Mol. Cell 10:1129-1137(2002)
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 85-278 IN COMPLEX WITH DNA; FUNCTION; DNA-BINDING; MUTAGENESIS OF ASN-127; GLU-132; PHE-177; ILE-186; THR-190; ASN-202; VAL-246 AND ASN-257; CHARACTERIZATION OF VARIANTS MODY3 PHE-142 AND GLN-205;
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;
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