UniProtKB/Swiss-Prot P56539: Variant p.Pro105Leu

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

Variant position:  105
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 Proline (P) to Leucine (L) at position 105 (P105L, p.Pro105Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

Variant description:  In LGMD1C and RMD.
Any additional useful information about the variant.



Sequence information

Variant position:  105
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:   ALLWGFLFACISFCHIWAVV  P CIKSYLIEIQCISHIYSLCI
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                         ALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCI

Mouse                         ALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCI

Rat                           ALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCI

Pig                           ALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCI

Bovine                        ALLWGFLFACISFCHIWAVVPCIKSYLIEIQCISHIYSLCI

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 105 – 151 Cytoplasmic
Region 64 – 114 Required for interaction with DAG1


Literature citations

Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.
Minetti C.; Sotgia F.; Bruno C.; Scartezzini P.; Broda P.; Bado M.; Masetti E.; Mazzocco M.; Egeo A.; Donati M.A.; Volonte D.; Galbiati F.; Cordone G.; Bricarelli F.D.; Lisanti M.P.; Zara F.;
Nat. Genet. 18:365-368(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANTS LGMD1C 64-THR--THR-66 DEL AND LEU-105;

Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.
Betz R.C.; Schoser B.G.H.; Kasper D.; Ricker K.; Ramirez A.; Stein V.; Torbergsen T.; Lee Y.-A.; Nothen M.M.; Wienker T.F.; Malin J.-P.; Propping P.; Reis A.; Mortier W.; Jentsch T.J.; Vorgerd M.; Kubisch C.;
Nat. Genet. 28:218-219(2001)
Cited for: VARIANTS RMD GLN-27; THR-46; VAL-46 AND LEU-105; SURFACE EXPRESSION OF VARIANT RMD THR-46;

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.