Variant position: 1186 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 2221 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 FIIYIIIIAFFMMNIFVGFV IVTFQEQGEQEYKNCELDKNQ
Mouse FIIYIIIIAFFMMNIFVGFV IVTFQEQGEQEYKNCELDKNQ
Rat FIIYIIIIAFFMMNIFVGFV IVTFQEQGEQEYKNCELDKNQ
Rabbit FIIYIIIIAFFMMNIFVGFV IVTFQEQGEQEYKNCELDKNQ
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 – 2221 Voltage-dependent L-type calcium channel subunit alpha-1C
1182 – 1239 Cytoplasmic
887 – 1189 III
1109 – 1198 Dihydropyridine binding
Novel Timothy syndrome mutation leading to increase in CACNA1C window current.
Boczek N.J.; Miller E.M.; Ye D.; Nesterenko V.V.; Tester D.J.; Antzelevitch C.; Czosek R.J.; Ackerman M.J.; Ware S.M.;
Heart Rhythm 12:211-219(2015)
Cited for: VARIANT TS THR-1186; CHARACTERIZATION OF VARIANT TS THR-1186;
Gain-of-function mutations in the calcium channel CACNA1C (Cav1.2) cause non-syndromic long-QT but not Timothy syndrome.
Wemhoener K.; Friedrich C.; Stallmeyer B.; Coffey A.J.; Grace A.; Zumhagen S.; Seebohm G.; Ortiz-Bonnin B.; Rinne S.; Sachse F.B.; Schulze-Bahr E.; Decher N.;
J. Mol. Cell. Cardiol. 80:186-195(2015)
Cited for: VARIANTS TS THR-28; GLY-860; THR-1186; VAL-1186; MET-1523; LYS-1544; ILE-1800 MET-1953 AND ILE-2097; CHARACTERIZATION OF VARIANTS TS THR-28; GLY-860; THR-1186; VAL-1186; MET-1523 AND LYS-1544; VARIANTS ARG-37; THR-304; LYS-477; SER-817; THR-1365; ILE-1755; GLY-1765; ASN-1787; MET-1835; ALA-1843; LYS-1948; CYS-1972; GLN-2056; ASN-2081; GLY-2122 AND SER-2174;
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.