Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20823: Variant p.Pro129Thr

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
Feedback?
Variant information Variant position: help 129
Type of variant: help US
Residue change: help From Proline (P) to Threonine (T) at position 129 (P129T, p.Pro129Thr).
Physico-chemical properties: help Change from medium size and hydrophobic (P) to medium size and polar (T)
BLOSUM score: help -1
Variant description: help In MODY3; uncertain significance.


Sequence information Variant position: help 129
Protein sequence length: help 631
Location on the sequence: help QEDPWRVAKMVKSYLQQHNI P QREVVDTTGLNQSHLSQHLN
Residue conservation: help 
Human                         QEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLN

Mouse                         QEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLN

Rat                           QEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLN

Chicken                       QEDPWRVAKMVKSYLQQHNIPQREVVDTTGLNQSHLSQHLN
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 631 Hepatocyte nuclear factor 1-alpha
Domain 87 – 182 POU-specific atypical
Cross 117 – 117 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence 120 – 631 Missing. In isoform 8.
Mutagenesis 117 – 117 K -> R. Strong loss of SPOP-mediated ubiquitination.
Mutagenesis 127 – 127 N -> W. Abolishes transcription activation.
Mutagenesis 132 – 132 E -> K. Abolishes transcription activation.



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;
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.