UniProtKB/Swiss-Prot O75923: Variant p.Gly519Arg

Dysferlin
Gene: DYSF
Chromosomal location: 2p13.1-p13.3
Variant information

Variant position:  519
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 have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
  • Polymorphism: No disease-association has been reported.
  • Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change:  From Glycine (G) to Arginine (R) at position 519 (G519R, p.Gly519Arg).
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 glycine (G) to large size and basic (R)
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:  Miyoshi muscular dystrophy 1 (MMD1) [MIM:254130]: A late-onset muscular dystrophy involving the distal lower limb musculature. It is characterized by weakness that initially affects the gastrocnemius muscle during early adulthood. 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 MMD1.
Any additional useful information about the variant.



Sequence information

Variant position:  519
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  2080
The length of the canonical sequence.

Location on the sequence:   AVKPSKASDLDDYLGFLPTF  G PCYINLYGSPREFTGFPDPY
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                         AVKPSKASDLDDYLGFLPTFGPCYINLYGSPREFTGFPDPY

Mouse                         VLKSPQATDLDDNLGFLPTFGPCYVNLYGSPREFTGFPDPY

Bovine                        VVKPPPATELDDHLGFLPTFGPCYINLYGSPREFTGFPDPY

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 – 2080 Dysferlin
Topological domain 1 – 2046 Cytoplasmic


Literature citations

Symptomatic dysferlin gene mutation carriers: characterization of two cases.
Illa I.; De Luna N.; Dominguez-Perles R.; Rojas-Garcia R.; Paradas C.; Palmer J.; Marquez C.; Gallano P.; Gallardo E.;
Neurology 68:1284-1289(2007)
Cited for: VARIANTS LGMD2B TYR-625 AND GLY-1734; VARIANT MMD1 ARG-519;

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.