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UniProtKB/Swiss-Prot P20823: Variant p.Ser487Asn

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
Variant information

Variant position:  487
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 Serine (S) to Asparagine (N) at position 487 (S487N, p.Ser487Asn).
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 small size and polar (S) to medium size and polar (N)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  487
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:   PLHPSYQQPLMPPVQSHVTQ  S PFMATMAQLQSPHALYSHKP
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                         PLHPSYQQPLMPPVQSHVTQSPFMATMAQLQSPHALYSHKP

Mouse                         PLHPSYQQPLMPPVQSHVAQSPFMATMAQLQSPHALYSHKP

Rat                           PLHPSYQQPLMPPVQSHVAQSPFMATMAQLQSPHALYSHKP

Chicken                       QLHPSYQQPLMQQVQSHINQSPFMATMAQIQNPHALYGPKS

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 438 – 494 LASTQAQSVPVINSMGSSLTTLQPVQFSQPLHPSYQQPLMPPVQSHVTQSPFMATMA -> KLVGMGGHLGGRLMGQPQNPGAGRATGTHSFIHSFIQHVFIQCLLWTSHCATSVIPG. In isoform C.


Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-27; VAL-98; ASN-487 AND SER-574;

Mutations in the hepatocyte nuclear factor-1alpha gene (MODY3) are not a major cause of late-onset NIDDM in Japanese subjects.
Yamada S.; Nishigori H.; Onda H.; Takahashi K.; Kitano N.; Morikawa A.; Takeuchi T.; Takeda J.;
Diabetes 46:1512-1513(1997)
Cited for: VARIANT NIDDM MET-254; VARIANTS LEU-27 AND ASN-487;

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;

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;

Mutations in the hepatocyte nuclear factor-1 alpha gene 'MODY3' are not a major cause of early-onset non-insulin-dependent 'type 2' diabetes mellitus in Japanese.
Nishigori H.; Yamada S.; Kohama T.; Utsugi T.; Shimizu H.; Takeuchi T.; Takeda J.;
J. Hum. Genet. 43:107-110(1998)
Cited for: VARIANTS LEU-27 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.