Variant position: 78 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 WKVSYTTFTVSKYWCYRLLS TLLGVPLALLWGFLFACISFC
Mouse WKVSFTTFTVSKYWCYRLLS TLLGVPLALLWGFLFACISFC
Rat WRVSYTTFTVSKYWCYRLLS TLLGVPLALLWGFLFACISFC
Pig WKVSYTTFTVSKYWCYRLLS TLLGVPLALLWGFLFACISFC
Bovine WKVSYTTFTVSKYWCYRLLS TLLGVPLALLWGFLFACISFC
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
64 – 114 Required for interaction with DAG1
Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome.
Vatta M.; Ackerman M.J.; Ye B.; Makielski J.C.; Ughanze E.E.; Taylor E.W.; Tester D.J.; Balijepalli R.C.; Foell J.D.; Li Z.; Kamp T.J.; Towbin J.A.;
Cited for: VARIANTS LQT9 MET-78; THR-85; CYS-97 AND ARG-141; VARIANTS SER-56 AND TRP-72; CHARACTERIZATION OF VARIANTS LQT9 CYS-97 AND ARG-141;
Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.
Cronk L.B.; Ye B.; Kaku T.; Tester D.J.; Vatta M.; Makielski J.C.; Ackerman M.J.;
Heart Rhythm 4:161-166(2007)
Cited for: VARIANTS LQT9/SIDS LEU-14; MET-78 AND ARG-79; INVOLVEMENT IN SIDS;
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.