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UniProtKB/Swiss-Prot P02511: Variant p.Arg120Gly

Alpha-crystallin B chain
Gene: CRYAB
Chromosomal location: 11q22.3-q23.1
Variant information

Variant position:  120
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 Arginine (R) to Glycine (G) at position 120 (R120G, p.Arg120Gly).
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 glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  Myopathy, myofibrillar, 2 (MFM2) [MIM:608810]: A form of myofibrillar myopathy, a group of chronic neuromuscular disorders characterized at ultrastructural level by disintegration of the sarcomeric Z disc and myofibrils, and replacement of the normal myofibrillar markings by small dense granules, or larger hyaline masses, or amorphous material. MFM2 is characterized by weakness of the proximal and distal limb muscles, weakness of the neck, velopharynx and trunk muscles, hypertrophic cardiomyopathy, and cataract in a subset of patients. {ECO:0000269|PubMed:12601044, ECO:0000269|PubMed:14681890, ECO:0000269|PubMed:21920752, ECO:0000269|PubMed:9731540}. Note=The disease is caused by mutations affecting the gene represented in this entry.
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 MFM2; decreased interactions with wild-type CRYAA and CRYAB but increased interactions with wild-type CRYBB2 and CRYGC.
Any additional useful information about the variant.

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



Sequence information

Variant position:  120
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  175
The length of the canonical sequence.

Location on the sequence:   VHGKHEERQDEHGFISREFH  R KYRIPADVDPLTITSSLSSD
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                         VHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSD

Mouse                         VHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSD

Rat                           VHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSD

Pig                           VHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSD

Bovine                        VHGKHEERQDEHGFISREFHRKYRIPADVDPLAITSSLSSD

Rabbit                        VHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSD

Sheep                         VHGKHEERQDEHGFISREFHRKYRIPADVDPLTITSSLSSD

Chicken                       IHGKHEERQDEHGFIAREFSRKYRIPADVDPLTITSSLSLD

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 – 175 Alpha-crystallin B chain
Domain 56 – 164 sHSP
Metal binding 104 – 104 Zinc 2
Metal binding 106 – 106 Zinc 2
Metal binding 111 – 111 Zinc 1
Metal binding 119 – 119 Zinc 1
Beta strand 112 – 123


Literature citations

A missense mutation in the alphaB-crystallin chaperone gene causes a desmin-related myopathy.
Vicart P.; Caron A.; Guicheney P.; Li Z.; Prevost M.-C.; Faure A.; Chateau D.; Chapon F.; Tome F.; Dupret J.-M.; Paulin D.; Fardeau M.;
Nat. Genet. 20:92-95(1998)
Cited for: VARIANT MFM2 GLY-120;

Alteration of protein-protein interactions of congenital cataract crystallin mutants.
Fu L.; Liang J.J.-N.;
Invest. Ophthalmol. Vis. Sci. 44:1155-1159(2003)
Cited for: CHARACTERIZATION OF VARIANTS MFM2 GLY-120;

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.