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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20823: Variant p.Gly20Arg

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
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Variant information Variant position: help 20
Type of variant: help LP/P [Disclaimer]
Residue change: help From Glycine (G) to Arginine (R) at position 20 (G20R, p.Gly20Arg).
Physico-chemical properties: help Change from glycine (G) to large size and basic (R)
BLOSUM score: help -2
Variant description: help In MODY3; abolishes interaction with PCBD1 and DNA.


Sequence information Variant position: help 20
Protein sequence length: help 631
Location on the sequence: help MVSKLSQLQTELLAALLES G LSKEALIQALGEPGPYLLAG
Residue conservation: help 
Human                         MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLLAG

Mouse                         MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLMVG

Rat                           MVSKLSQLQTELLAALLESGLSKEALIQALGEPGPYLMVG

Chicken                       MVSKLSHLQVELLGALLESGLTKETLIKGLSEAEPYVLQS
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 631 Hepatocyte nuclear factor 1-alpha
Domain 1 – 32 HNF-p1
Region 1 – 31 Dimerization
Alternative sequence 1 – 117 Missing. In isoform 6.



Literature citations
Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.
Ng M.C.Y.; Cockburn B.N.; Lindner T.H.; Yeung V.T.F.; Chow C.-C.; So W.-Y.; Li J.K.Y.; Lo Y.M.D.; Lee Z.S.K.; Cockram C.S.; Critchley J.A.J.H.; Bell G.I.; Chan J.C.N.;
Diabet. Med. 16:956-963(1999)
Cited for: VARIANTS MODY3 ARG-20; HIS-203; CYS-432 AND MET-618; Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha.
Rose R.B.; Bayle J.H.; Endrizzi J.A.; Cronk J.D.; Crabtree G.R.; Alber T.;
Nat. Struct. Biol. 7:744-748(2000)
Cited for: CHARACTERIZATION OF VARIANTS MODY3 HIS-12; ARG-20 AND ASP-31; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH PCBD1;
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.