Variant position: 93 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 YRLLSTLLGVPLALLWGFLF ACISFCHIWAVVPCIKSYLIE
Mouse YRLLSTLLGVPLALLWGFLF ACISFCHIWAVVPCIKSYLIE
Rat YRLLSTLLGVPLALLWGFLF ACISFCHIWAVVPCIKSYLIE
Pig YRLLSTLLGVPLALLWGFLF ACISFCHIWAVVPCIKSYLIE
Bovine YRLLSTLLGVPLALLWGFLF ACISFCHIWAVVPCIKSYLIE
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
84 – 104 Helical
64 – 114 Required for interaction with DAG1
Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.
Kubisch C.; Schoser B.G.H.; von Duering M.; Betz R.C.; Goebel H.-H.; Zahn S.; Ehrbrecht A.; Aasly J.; Schroers A.; Popovic N.; Lochmueller H.; Schroeder J.M.; Bruening T.; Malin J.-P.; Fricke B.; Meinck H.-M.; Torbergsen T.; Engels H.; Voss B.; Vorgerd M.;
Ann. Neurol. 53:512-520(2003)
Cited for: VARIANTS RMD2 PRO-87 AND THR-93;
Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.
Kubisch C.; Ketelsen U.-P.; Goebel I.; Omran H.;
Ann. Neurol. 57:303-304(2005)
Cited for: VARIANT RMD2 THR-93;
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