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UniProtKB/Swiss-Prot P00325: Variant p.Arg370Cys

All-trans-retinol dehydrogenase [NAD(+)] ADH1B
Gene: ADH1B
Variant information

Variant position:  370
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 Arginine (R) to Cysteine (C) at position 370 (R370C, p.Arg370Cys).
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 large size and basic (R) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
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*2. The ADH1B*2 allele frequency in orientals is approximately 75%, whereas it is less than 5% in most Caucasian populations. The ADH1B*2 allele is associated with a lower risk of alcoholism. ADH1B variations have been associated with protection against alcohol dependence and alcohol-related aerodigestive tract cancer [MIM:103720].
Additional information on the polymorphism described.

Variant description:  In beta-3/Indianapolis; allele ADH1B*3; decreased NAD(H) binding.
Any additional useful information about the variant.

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

Sequence information

Variant position:  370
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:   VLPFEKINEGFDLLHSGKSI  R TVLTF
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                         VLPFEKINEGFDLLHSGKSIRTVLTF

Chimpanzee                    VLPFEKINEGFDLLHSGKSIRTVLTF

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.

Chain 2 – 375 All-trans-retinol dehydrogenase [NAD(+)] ADH1B
Binding site 370 – 370 NAD
Beta strand 369 – 374

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)

NIEHS SNPs program;

The human beta 3 alcohol dehydrogenase subunit differs from beta 1 by a Cys for Arg-369 substitution which decreases NAD(H) binding.
Burnell J.C.; Carr L.G.; Dwulet F.E.; Edenberg H.J.; Li T.-K.; Bosron W.F.;
Biochem. Biophys. Res. Commun. 146:1127-1133(1987)

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.