Variant position: 206 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 IEEPTGDELPTKKGRRNRFK WGPASQQILFQAYERQKNPSK
Mouse IEEPTGDELPTKKGRRNRFK WGPASQQILFQAYERQKNPSK
Rat IEEPTGDELPTKKGRRNRFK WGPASQQILFQAYERQKNPSK
Chicken TEEPMGDDLPTKKGRRNRFK WGPASQQILFQAYERQKNPSK
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
203 – 206 Interaction with DNA
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%.
Bi-allelic inactivation of TCF1 in hepatic adenomas.
Bluteau O.; Jeannot E.; Bioulac-Sage P.; Marques J.M.; Blanc J.-F.; Bui H.; Beaudoin J.-C.; Franco D.; Balabaud C.; Laurent-Puig P.; Zucman-Rossi J.;
Nat. Genet. 32:312-315(2002)
Cited for: INVOLVEMENT IN HEPATIC ADENOMAS; VARIANTS TYR-127; CYS-165; CYS-206; LEU-206; SER-237; GLY-244; PRO-250; CYS-268; GLU-273; SER-574 AND GLN-583;
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.