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UniProtKB/Swiss-Prot P20823: Variant p.Arg271Trp

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
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Variant information Variant position: help 271
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 271 (R271W, p.Arg271Trp).
Physico-chemical properties: help Change from large size and basic (R) to large size and aromatic (W)
BLOSUM score: help -3
Variant description: help In MODY3.


Sequence information Variant position: help 271
Protein sequence length: help 631
Location on the sequence: help AQGLGSNLVTEVRVYNWFAN R RKEEAFRHKLAMDTYSGPPP
Residue conservation: help 
Human                         AQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYSGPPP

Mouse                         AQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYNGPPP

Rat                           AQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDTYNGPPP

Chicken                       AQGLGSNLVTEVRVYNWFANRRKEEAFRHKLAMDNFSGPQP
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 631 Hepatocyte nuclear factor 1-alpha
DNA binding 199 – 279 Homeobox; HNF1-type
Region 270 – 273 Interaction with DNA
Alternative sequence 120 – 631 Missing. In isoform 8.
Alternative sequence 176 – 278 QFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFR -> RRNASREGCPHHRHRGWAPTSSRRCVSTTGLPTGAKKKPSGTSWPWTRTAGPPQGQARDLRCPLTAPLACLHLPSPPVRSTVCAMDSLRPVRLQKYPQAAAVP. In isoform 4.
Alternative sequence 248 – 631 Missing. In isoform 5.
Mutagenesis 257 – 257 N -> W. Reduces transcription activation by 70%.
Helix 261 – 274



Literature citations
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
Chevre J.-C.; Hani E.H.; Boutin P.; Vaxillaire M.; Blanche H.; Vionnet N.; Pardini V.C.; Timsit J.; Larger E.; Charpentier G.; Beckers D.; Maes M.; Bellanne-Chantelot C.; Velho G.; Froguel P.;
Diabetologia 41:1017-1023(1998)
Cited for: VARIANTS MODY3 ASP-31; TRP-159; THR-161; TRP-200 AND TRP-271;
Disclaimer: 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.