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UniProtKB/Swiss-Prot Q8IXL7: Variant p.Cys89Gly

Methionine-R-sulfoxide reductase B3
Gene: MSRB3
Chromosomal location: 12q14.3
Variant information

Variant position:  89
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Cysteine (C) to Glycine (G) at position 89 (C89G, p.Cys89Gly).
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 (C) to glycine (G)
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

Involvement in disease:  Deafness, autosomal recessive, 74 (DFNB74) [MIM:613718]: A form of non-syndromic sensorineural deafness characterized by prelingual, bilateral, profound hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. {ECO:0000269|PubMed:21185009}. Note=The disease is caused by mutations affecting the gene represented in this entry. A nonsense mutation affecting exclusively mitochondrial isoform 2 is sufficient to produce hearing loss.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In DFNB74; abolishes zinc-binding and enzymatic activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  89
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  192
The length of the canonical sequence.

Location on the sequence:   SAFEGEYTHHKDPGIYKCVV  C GTPLFKSETKFDSGSGWPSF
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                         SAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPSF

Mouse                         SAFEGEYTHHKDPGIYKCVVCGTPLFKSETKFDSGSGWPAF

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 33 – 192 Methionine-R-sulfoxide reductase B3
Domain 47 – 169 MsrB
Metal binding 86 – 86 Zinc
Metal binding 89 – 89 Zinc


Literature citations

Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74.
Ahmed Z.M.; Yousaf R.; Lee B.C.; Khan S.N.; Lee S.; Lee K.; Husnain T.; Rehman A.U.; Bonneux S.; Ansar M.; Ahmad W.; Leal S.M.; Gladyshev V.N.; Belyantseva I.A.; Van Camp G.; Riazuddin S.; Friedman T.B.; Riazuddin S.;
Am. J. Hum. Genet. 88:19-29(2011)
Cited for: VARIANT DFNB74 GLY-89; FUNCTION; ALTERNATIVE SPLICING; TISSUE SPECIFICITY;

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.