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UniProtKB/Swiss-Prot P20823: Variant p.Arg203His

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
Variant information

Variant position:  203
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 203 (R203H, p.Arg203His).
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 MODY3.
Any additional useful information about the variant.



Sequence information

Variant position:  203
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

Location on the sequence:   GGLIEEPTGDELPTKKGRRN  R FKWGPASQQILFQAYERQKN
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.

Human                         GGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKN

Mouse                         GGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKN

Rat                           GGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKN

Chicken                       GILTEEPMGDDLPTKKGRRNRFKWGPASQQILFQAYERQKN

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.

TypePositionsDescription
Chain 1 – 631 Hepatocyte nuclear factor 1-alpha
DNA binding 199 – 279 Homeobox; HNF1-type
Region 183 – 205 Disordered
Region 203 – 206 Interaction with DNA
Motif 197 – 205 Nuclear localization signal
Alternative sequence 120 – 631 Missing. In isoform 8.
Alternative sequence 176 – 278 QFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFR -> RRNASREGCPHHRHRGWAPTSSRRCVSTTGLPTGAKKKPSGTSWPWTRTAGPPQGQARDLRCPLTAPLACLHLPSPPVRSTVCAMDSLRPVRLQKYPQAAAVP. In isoform 4.
Mutagenesis 186 – 186 I -> Q. No effect on transcription activation.
Mutagenesis 190 – 190 T -> Q. No effect on transcription activation.
Mutagenesis 202 – 202 N -> D. Reduces transcription activation by 70%.


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;

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.