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UniProtKB/Swiss-Prot P20823: Variant p.Arg272His

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
Variant information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Histidine (H) at position 272 (R272H, p.Arg272His).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (R) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In IDDM20 and MODY3.
Any additional useful information about the variant.

Sequence information

Variant position:  272
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  631
The length of the canonical sequence.

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.





Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

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 248 – 631 Missing. In isoform 5.
Mutagenesis 257 – 257 N -> W. Reduces transcription activation by 70%.
Helix 261 – 274

Literature citations

Novel mutations and a mutational hotspot in the MODY3 gene.
Glucksmann M.A.; Lehto M.; Tayber O.; Scotti S.; Berkemeier L.; Pulido J.C.; Wu Y.; Nir W.-J.; Fang L.; Markel P.; Munnelly K.D.; Goranson J.; Orho M.; Young B.M.; Whitacre J.L.; McMenimen C.; Wantman M.; Tuomi T.; Warram J.; Forsblom C.M.; Carlsson M.; Rosenzweig J.; Kennedy G.; Duyk G.M.; Krolewski A.S.; Groop L.C.; Thomas J.D.;
Diabetes 46:1081-1086(1997)
Cited for: VARIANTS MODY3 ARG-107; TRP-131; MET-260 AND HIS-272;

Identification of mutations in the hepatocyte nuclear factor (HNF)-1-alpha gene in Japanese subjects with IDDM.
Yamada S.; Nishigori H.; Onda H.; Utsugi T.; Yanagawa T.; Maruyama T.; Onigata K.; Nagashima K.; Nagai R.; Morikawa A.; Takeuchi T.; Takeda J.;
Diabetes 46:1643-1647(1997)
Cited for: VARIANTS IDDM20 HIS-272 AND GLY-583;

Mutations in the hepatocyte nuclear factor-1alpha gene in MODY and early-onset NIDDM: evidence for a mutational hotspot in exon 4.
Kaisaki P.J.; Menzel S.; Lindner T.; Oda N.; Rjasanowski I.; Sahm J.; Meincke G.; Schulze J.; Schmechel H.; Petzold C.; Ledermann H.M.; Sachse G.; Boriraj V.V.; Menzel R.; Kerner W.; Turner R.C.; Yamagata K.; Bell G.I.;
Diabetes 46:528-535(1997)
Cited for: VARIANTS MODY3 GLN-131; GLN-229; GLY-241 AND HIS-272;

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.