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UniProtKB/Swiss-Prot P56539: Variant p.Arg27Gln

Caveolin-3
Gene: CAV3
Variant information

Variant position:  27
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Arginine (R) to Glutamine (Q) at position 27 (R27Q, p.Arg27Gln).
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 medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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 HYPCK, RMD2 and MPDT.
Any additional useful information about the variant.

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



Sequence information

Variant position:  27
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:   TDLEAQIVKDIHCKEIDLVN  R DPKNINEDIVKVDFEDVIAE
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                         TDLEAQIVKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAE

Mouse                         TDLEARIIKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAE

Rat                           TDLEARIIKDIHCKEIDLVNRDPKNINEDIVKVDFEDVIAE

Pig                           TDLEAQIVKDIHFKEIDLVNRDPKNINEDIVKVDFEDVIAE

Bovine                        TDLEAQIVKDIHFKEIDLVNRDPKNINEDIVKVDFEDVIAE

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
Cross 38 – 38 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO3)


Literature citations

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.
Carbone I.; Bruno C.; Sotgia F.; Bado M.; Broda P.; Masetti E.; Panella A.; Zara F.; Bricarelli F.D.; Cordone G.; Lisanti M.P.; Minetti C.;
Neurology 54:1373-1376(2000)
Cited for: VARIANT HYPCK GLN-27;

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: INVOLVEMENT IN RMD2; VARIANTS RMD2 GLN-27; THR-46; VAL-46 AND LEU-105; CHARACTERIZATION OF VARIANT RMD2 THR-46;

A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.
Vorgerd M.; Ricker K.; Ziemssen F.; Kress W.; Goebel H.H.; Nix W.A.; Kubisch C.; Schoser B.G.H.; Mortier W.;
Neurology 57:2273-2277(2001)
Cited for: INVOLVEMENT IN RMD2; VARIANT RMD2 GLN-27;

Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.
Tateyama M.; Aoki M.; Nishino I.; Hayashi Y.K.; Sekiguchi S.; Shiga Y.; Takahashi T.; Onodera Y.; Haginoya K.; Kobayashi K.; Iinuma K.; Nonaka I.; Arahata K.; Itoyama Y.;
Neurology 58:323-325(2002)
Cited for: VARIANT MPDT GLN-27;

Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.
Figarella-Branger D.; Pouget J.; Bernard R.; Krahn M.; Fernandez C.; Levy N.; Pellissier J.F.;
Neurology 61:562-564(2003)
Cited for: VARIANT RMD2 GLN-27;

Molecular and muscle pathology in a series of caveolinopathy patients.
Fulizio L.; Chiara-Nascimbeni A.; Fanin M.; Piluso G.; Politano L.; Nigro V.; Angelini C.;
Hum. Mutat. 25:82-89(2005)
Cited for: VARIANT HYPCK GLN-27; VARIANT RMD2 THR-46; VARIANT MPDT LYS-33; VARIANT MYOPATHY ARG-61;

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.