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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P52945: Variant p.Arg197His

Pancreas/duodenum homeobox protein 1
Gene: PDX1
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Variant information Variant position: help 197
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 197 (R197H, p.Arg197His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Variant description: help Risk factor for type 2 diabetes.
Other resources: help


Sequence information Variant position: help 197
Protein sequence length: help 283
Location on the sequence: help VELAVMLNLTERHIKIWFQN R RMKWKKEEDKKRGGGTAVGG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 283 Pancreas/duodenum homeobox protein 1
DNA binding 146 – 205 Homeobox
Motif 197 – 203 Nuclear localization signal



Literature citations
Missense mutations in the insulin promoter factor-1 gene predispose to type 2 diabetes.
Macfarlane W.M.; Frayling T.M.; Ellard S.; Evans J.C.; Allen L.I.; Bulman M.P.; Ayres S.; Shepherd M.; Clark P.; Millward A.; Demaine A.; Wilkin T.; Docherty K.; Hattersley A.T.;
J. Clin. Invest. 104:R33-R39(1999)
Cited for: VARIANTS ARG-18; ASN-76 AND HIS-197; INVOLVEMENT IN T2D;
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.