UniProtKB/Swiss-Prot P56539: Variant p.Leu79Arg

Caveolin-3
Gene: CAV3
Chromosomal location: 3p25
Variant information

Variant position:  79
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 Leucine (L) to Arginine (R) at position 79 (L79R, p.Leu79Arg).
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 hydrophobic (L) 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:  Long QT syndrome 9 (LQT9) [MIM:611818]: A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy. 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.

Involvement in disease:  Sudden infant death syndrome (SIDS) [MIM:272120]: SIDS is the sudden death of an infant younger than 1 year that remains unexplained after a thorough case investigation, including performance of a complete autopsy, examination of the death scene, and review of clinical history. Pathophysiologic mechanisms for SIDS may include respiratory dysfunction, cardiac dysrhythmias, cardiorespiratory instability, and inborn errors of metabolism, but definitive pathogenic mechanisms precipitating an infant sudden death remain elusive. Note=Disease susceptibility is associated with variations 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 LQT9 and SIDS.
Any additional useful information about the variant.



Sequence information

Variant position:  79
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  151
The length of the canonical sequence.

Location on the sequence:   KVSYTTFTVSKYWCYRLLST  L LGVPLALLWGFLFACISFCH
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                         KVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCH

Mouse                         KVSFTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCH

Rat                           RVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCH

Pig                           KVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCH

Bovine                        KVSYTTFTVSKYWCYRLLSTLLGVPLALLWGFLFACISFCH

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 – 151 Caveolin-3
Topological domain 1 – 83 Cytoplasmic
Region 64 – 114 Required for interaction with DAG1


Literature citations

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
Cronk L.B.; Ye B.; Kaku T.; Tester D.J.; Vatta M.; Makielski J.C.; Ackerman M.J.;
Heart Rhythm 4:161-166(2007)
Cited for: VARIANTS LQT9/SIDS LEU-14; MET-78 AND ARG-79;

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.