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UniProtKB/Swiss-Prot P20823: Variant p.His514Arg

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
Variant information

Variant position:  514
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Histidine (H) to Arginine (R) at position 514 (H514R, p.His514Arg).
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 medium size and polar (H) to large size and basic (R)
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

Polymorphism:  The Ala-98/Val-98 polymorphism is associated with a reduction in glucose-induced serum C-peptide and insulin responses.
Additional information on the polymorphism described.



Sequence information

Variant position:  514
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:   AQLQSPHALYSHKPEVAQYT  H TGLLPQTMLITDTTNLSALA
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                         AQLQSPHALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALA

Mouse                         AQLQSPHALYSHKPEVAQYTHTSLLPQTMLITDT-NLSTLA

Rat                           AQLQSPHALYSHKPEVAQYTHTSLLPQTMLITDT-NLSTLA

Chicken                       AQIQNPHALYGPKSEVAQYTHTGLLPQTMVITDTANLSALT

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
Alternative sequence 120 – 631 Missing. In isoform 8.
Alternative sequence 248 – 631 Missing. In isoform 5.
Alternative sequence 279 – 631 Missing. In isoform 4.
Alternative sequence 438 – 520 LASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMAQLQSPHALYSHKPEVAQYTHTGLLPQ -> KLVGMGGHLGGRLMGQPQNPGAGRATGTHSFIHTTCIYPVPTLDQSLCYISDTWVNQTDQNLSNSSREAGTKHNTSILWYLRR. In isoform 6.
Alternative sequence 495 – 601 Missing. In isoform C.
Alternative sequence 501 – 542 ALYSHKPEVAQYTHTGLLPQTMLITDTTNLSALASLTPTKQV -> GEHPVPHTAGDDDRGWLSMDAGERGAWQALQSACVSGTSVFP. In isoform B.


Literature citations

Hepatocyte nuclear factor 1alpha coding mutations are an uncommon contributor to early-onset type 2 diabetes in Ashkenazi Jews.
Behn P.S.; Wasson J.; Chayen S.; Smolovitch I.; Thomas J.D.; Glaser B.; Permutt M.A.;
Diabetes 47:967-969(1998)
Cited for: VARIANTS LEU-27; ASN-487 AND ARG-514;

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.