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:
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 ALLWGFLFACISFCHIWAVV PCIKSYLIEIQCISHIYSLCI
Mouse ALLWGFLFACISFCHIWAVV PCIKSYLIEIQCISHIYSLCI
Rat ALLWGFLFACISFCHIWAVV PCIKSYLIEIQCISHIYSLCI
Pig ALLWGFLFACISFCHIWAVV PCIKSYLIEIQCISHIYSLCI
Bovine ALLWGFLFACISFCHIWAVV PCIKSYLIEIQCISHIYSLCI
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
105 – 151 Cytoplasmic
64 – 114 Required for interaction with DAG1
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;
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.