UniProtKB/Swiss-Prot P20823: Variant p.His514Arg

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
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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.

Type	Positions	Description
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.