Variant position: 33 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 IVKDIHCKEIDLVNRDPKNI NEDIVKVDFEDVIAEPVGTYS
Mouse IIKDIHCKEIDLVNRDPKNI NEDIVKVDFEDVIAEPEGTYS
Rat IIKDIHCKEIDLVNRDPKNI NEDIVKVDFEDVIAEPEGTYS
Pig IVKDIHFKEIDLVNRDPKNI NEDIVKVDFEDVIAEPVGTYS
Bovine IVKDIHFKEIDLVNRDPKNI NEDIVKVDFEDVIAEPVGTYS
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)
Two novel CAV3 gene mutations in Japanese families.
Sugie K.; Murayama K.; Noguchi S.; Murakami N.; Mochizuki M.; Hayashi Y.K.; Nonaka I.; Nishino I.;
Neuromuscul. Disord. 14:810-814(2004)
Cited for: VARIANTS RMD2 LYS-33 AND GLU-44;
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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