UniProtKB/SwissProt variant VAR

Variant information

Variant position:

57

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

Type of variant:

Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

Disease: Variants implicated in disease according to literature reports.
Polymorphism: Variants not reported to be implicated in disease.
Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:

From Asparagine (N) to Lysine (K) at position 57 (N57K, p.Asn57Lys).

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 (N) to large size and basic (K)

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:

Three alleles are known: ADH1B*1 (ADH2*1) corresponding to variant beta-1, ADH1B*2 (ADH2*2) corresponding to variant beta-2, ADH1B*3 (ADH2*3) corresponding to variant beta-3. The sequence shown is that of allele ADH1B*1. The ADH1B*2 allele frequency in orientals is approximately 75%, whereas it is less than 5% in most Caucasian populations. ADH1B variations have been associated with protection against alcohol dependence and alcohol-related aerodigestive tract cancer [MIM:103720].

Additional information on the polymorphism described.

Other resources:

Links to websites of interest for the variant.

Variant rs1041969 [ dbSNP | Ensembl ]

Sequence information

Variant position:

57

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

Protein sequence length:

375

The length of the canonical sequence.

Location on the sequence:

VRIKMVAVGICRTDDHVVSG N LVTPLPVILGHEAAGIVESV

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                         VRIKMVAVGICRTDDHVVSGNLVTPLPVILGHEAAGIVESV

Chimpanzee                    VRIKMVAVGICRTDDHVVSGNLVTPLPAILGHEAAGIVESV

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	2 – 375	All-trans-retinol dehydrogenase [NAD(+)] ADH1B
Metal binding	47 – 47	Zinc 1; catalytic
Metal binding	68 – 68	Zinc 1; catalytic
Beta strand	56 – 58

Literature citations

Nucleotide sequence of the ADH2(3) gene encoding the human alcohol dehydrogenase beta 3 subunit.
Carr L.G.; Xu Y.; Ho W.H.; Edenberg H.J.;
Alcohol. Clin. Exp. Res. 13:594-596(1989)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-48; LYS-57 AND CYS-370; POLYMORPHISM;

Genotyping of human alcohol dehydrogenases at the ADH2 and ADH3 loci following DNA sequence amplification.
Xu Y.L.; Carr L.G.; Bosron W.F.; Li T.K.; Edenberg H.J.;
Genomics 2:209-214(1988)
Cited for: PARTIAL NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LYS-57;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P00325: Variant p.Asn57Lys