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UniProtKB/Swiss-Prot P11532: Variant p.Cys3313Phe

Dystrophin
Gene: DMD
Variant information

Variant position:  3313
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 Phenylalanine (F) at position 3313 (C3313F, p.Cys3313Phe).
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 large size and aromatic (F)
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:  Duchenne muscular dystrophy (DMD) [MIM:310200]: Most common form of muscular dystrophy; a sex-linked recessive disorder. It typically presents in boys aged 3 to 7 year as proximal muscle weakness causing waddling gait, toe-walking, lordosis, frequent falls, and difficulty in standing up and climbing up stairs. The pelvic girdle is affected first, then the shoulder girdle. Progression is steady and most patients are confined to a wheelchair by age of 10 or 12. Flexion contractures and scoliosis ultimately occur. About 50% of patients have a lower IQ than their genetic expectations would suggest. There is no treatment. {ECO:0000269|PubMed:12632325, ECO:0000269|PubMed:24302611, ECO:0000269|PubMed:7981690, ECO:0000269|PubMed:8401582, ECO:0000269|PubMed:8817332, ECO:0000269|PubMed:9851445}. 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 DMD; results in highly reduced protein levels and expression at the sarcolemma.
Any additional useful information about the variant.



Sequence information

Variant position:  3313
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  3685
The length of the canonical sequence.

Location on the sequence:   VWLPVLHRVAAAETAKHQAK  C NICKECPIIGFRYRSLKHFN
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                         VWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFN

                              VWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFN

Mouse                         VWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFN

Rat                           VWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFN

Pig                           VWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFN

Chicken                       VWLPVLHRVAAAETAKHQAKCNICKECPIIGFRYRSLKHFN

Caenorhabditis elegans        VWLAVMHRLVISESTKHASKCNVCKMFPIIGIRYRCLTCFN

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 – 3685 Dystrophin
Zinc finger 3307 – 3354 ZZ-type
Region 3058 – 3408 Interaction with SYNM


Literature citations

Rapid direct sequence analysis of the dystrophin gene.
Flanigan K.M.; von Niederhausern A.; Dunn D.M.; Alder J.; Mendell J.R.; Weiss R.B.;
Am. J. Hum. Genet. 72:931-939(2003)
Cited for: VARIANT DMD PHE-3313; VARIANT VAL-165;

The ZZ domain of dystrophin in DMD: making sense of missense mutations.
Vulin A.; Wein N.; Strandjord D.M.; Johnson E.K.; Findlay A.R.; Maiti B.; Howard M.T.; Kaminoh Y.J.; Taylor L.E.; Simmons T.R.; Ray W.C.; Montanaro F.; Ervasti J.M.; Flanigan K.M.;
Hum. Mutat. 35:257-264(2014)
Cited for: CHARACTERIZATION OF VARIANTS DMD PHE-3313; HIS-3335 AND TYR-3340;

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.