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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20823: Variant p.Arg159Trp

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
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Variant information Variant position: help 159
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Tryptophan (W) at position 159 (R159W, p.Arg159Trp).
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 159
Protein sequence length: help 631
Location on the sequence: help LNQSHLSQHLNKGTPMKTQK R AALYTWYVRKQREVAQQFTH
Residue conservation: help 
Human                         LNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTH

Mouse                         LNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTH

Rat                           LNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTH

Chicken                       LNQSHLSQHLNKGTPMKTQKRAALYTWYVRKQREVAQQFTH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 631 Hepatocyte nuclear factor 1-alpha
Domain 87 – 182 POU-specific atypical
Alternative sequence 120 – 631 Missing. In isoform 8.
Mutagenesis 177 – 177 F -> S. No significant effect on transcription activation.
Helix 156 – 169



Literature citations
Mutations in the hepatocyte nuclear factor-1alpha gene are a common cause of maturity-onset diabetes of the young in the U.K.
Frayling T.M.; Bulman M.P.; Ellard S.; Appleton M.; Dronsfield M.J.; Mackie A.D.; Baird J.D.; Kaisaki P.J.; Yamagata K.; Bell G.I.; Bain S.C.; Hattersley A.T.;
Diabetes 46:720-725(1997)
Cited for: VARIANTS MODY3 THR-129; TRP-131; TRP-159; LEU-519 AND ILE-620; 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.