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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20823: Variant p.Ala98Val

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
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Variant information Variant position: help 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Valine (V) at position 98 (A98V, p.Ala98Val). 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: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help 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.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 98 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 631 The length of the canonical sequence.
Location on the sequence: help GEDFTPPILKELENLSPEEA A HQKAVVETLLQEDPWRVAKM 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         GEDFTPPILKELENLSPEEAAHQKAVVETLLQEDPWRVAKM

Mouse                         GEDFAPPILKELENLSPEEAAHQKAVVESLLQEDPWRVAKM

Rat                           GEDFAPPILKELENLSPEEAAHQKAVVESLLQEDPWRVAKM

Chicken                       GEEFTPPIMKELENLSPEEAAHQKAVVERLLQEDPWRVAKM

Sequence annotation in neighborhood: help 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
Domain 87 – 182 POU-specific atypical
Modified residue 93 – 93 Phosphoserine
Cross 117 – 117 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Alternative sequence 1 – 117 Missing. In isoform 6.
Mutagenesis 117 – 117 K -> R. Strong loss of SPOP-mediated ubiquitination.
Helix 94 – 107



Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-27; VAL-98; ASN-487 AND SER-574; A prevalent amino acid polymorphism at codon 98 in the hepatocyte nuclear factor-1alpha gene is associated with reduced serum C-peptide and insulin responses to an oral glucose challenge.
Urhammer S.A.; Fridberg M.; Hansen T.; Rasmussen S.K.; Moeller A.M.; Clausen J.O.; Pedersen O.;
Diabetes 46:912-916(1997)
Cited for: VARIANTS LEU-27; VAL-98 AND ASN-487; Genetic variation in the hepatocyte nuclear factor-1 alpha gene in Danish Caucasians with late-onset NIDDM.
Urhammer S.A.; Rasmussen S.K.; Kaisaki P.J.; Oda N.; Yamagata K.; Moeller A.M.; Fridberg M.; Hansen L.; Hansen T.; Bell G.I.; Pedersen O.;
Diabetologia 40:473-475(1997)
Cited for: VARIANT NIDDM GLN-583; VARIANTS LEU-27; VAL-98 AND ASN-487;
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.