Variant position: 46 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:
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 NRDPKNINEDIVKVDFEDVI AEPVGTYSFDGVWKVSYTTFT
Mouse NRDPKNINEDIVKVDFEDVI AEPEGTYSFDGVWKVSFTTFT
Rat NRDPKNINEDIVKVDFEDVI AEPEGTYSFDGVWRVSYTTFT
Pig NRDPKNINEDIVKVDFEDVI AEPVGTYSFDGVWKVSYTTFT
Bovine NRDPKNINEDIVKVDFEDVI AEPVGTYSFDGVWKVSYTTFT
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.
Type Positions Description
1 – 151 Caveolin-3
1 – 83 Cytoplasmic
38 – 38 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO3)
Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.
Herrmann R.; Straub V.; Blank M.; Kutzick C.; Franke N.; Jacob E.N.; Lenard H.-G.; Kroger S.; Voit T.;
Hum. Mol. Genet. 9:2335-2340(2000)
Cited for: VARIANT RMD2 THR-46;
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;
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;
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