Variant position: 203 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 GGLIEEPTGDELPTKKGRRN RFKWGPASQQILFQAYERQKN
Mouse GGLIEEPTGDELPTKKGRRN RFKWGPASQQILFQAYERQKN
Rat GGLIEEPTGDELPTKKGRRN RFKWGPASQQILFQAYERQKN
Chicken GILTEEPMGDDLPTKKGRRN RFKWGPASQQILFQAYERQKN
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%.
Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.
Yamada S.; Tomura H.; Nishigori H.; Sho K.; Mabe H.; Iwatani N.; Takumi T.; Kito Y.; Moriya N.; Muroya K.; Ogata T.; Onigata K.; Morikawa A.; Inoue I.; Takeda J.;
Cited for: VARIANTS MODY3 HIS-12; ASN-158; GLN-159 AND CYS-203;
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.