CACNA1C | VGRDWPWIYFVTLIIIGSFFVLNLVLGVLS>G<EFSKEREKAKARGDFQKLREKQQLEEDLKG | 436 |
CACNA1A | SGNTWNWLYFIPLIIIGSFFMLNLVLGVLS>G<EFAKERERVENRRAFLKLRRQQQIERELNG | 391 |
CACNA1B | AGNTWNWLYFIPLIIIGSFFMLNLVLGVLS>G<EFAKERERVENRRAFLKLRRQQQIERELNG | 387 |
CACNA1D | IGWEWPWVYFVSLIILGSFFVLNLVLGVLS>G<EFSKEREKAKARGDFQKLREKQQLEEDLKG | 437 |
CACNA1E | LGATWNWLYFIPLIIIGSFFVLNLVLGVLS>G<EFAKERERVENRRAFMKLRRQQQIERELNG | 382 |
CACNA1F | MGYELPWVYFVSLVIFGSFFVLNLVLGVLS>G<EFSKEREKAKARGDFQKQREKQQMEEDLRG | 403 |
CACNA1G | HSF-YNFIYFILLIIVGSFFMINLCLVVIA>T<QFSETKQRESQLMREQRVRFLSNASTLASF | 426 |
CACNA1H | HSF-YNFIYFILLIIVGSFFMINLCLVVIA>T<QFSETKQRESQLMREQRARHLSNDSTLASF | 450 |
CACNA1I | HSF-YNFIYFILLIIVGSFFMINLCLVVIA>T<QFSETKQREHRLMLEQRQRYLS-SSTVASY | 428 |
CACNA1S | IGNEWPWIYFVTLILLGSFFILNLVLGVLS>G<EFTKEREKAKSRGTFQKLREKQQLDEDLRG | 365 |
SCN10A | SGKIY-MIFFVLVIFLGSFYLVNLILAVVT>M<AYEEQNQATTDEIEAK-EKKFQEALEMLRK | 427 |
SCN11A | TGLYS-VFFFIVVIFLGSFYLINLTLAVVT>M<AYEEQNKNVAAEIEAK-EKMFQEAQQLLKE | 430 |
SCN1A | AGKTY-MIFFVLVIFLGSFYLINLILAVVA>M<AYEEQNQATLEEAEQK-EAEFQQMIEQLKK | 453 |
SCN2A | AGKTY-MIFFVLVIFLGSFYLINLILAVVA>M<AYEEQNQATLEEAEQK-EAEFQQMLEQLKK | 455 |
SCN3A | AGKTY-MIFFVLVIFLGSFYLVNLILAVVA>M<AYEEQNQATLEEAEQK-EAEFQQMLEQLKK | 454 |
SCN4A | AGKTY-MIFFVVIIFLGSFYLINLILAVVA>M<AYAEQNEATLAEDKEK-EEEFQQMLEKFKK | 477 |
SCN5A | AGKIY-MIFFMLVIFLGSFYLVNLILAVVA>M<AYEEQNQATIAETEEK-EKRFQEAMEMLKK | 443 |
SCN7A | SGKVY-MIFFVVVSFLFSFYMASLFLGILA>M<AYEEEKQRVGEISKKI-EPKFQQTGKELQE | 424 |
SCN8A | AGKTY-MIFFVLVIFVGSFYLVNLILAVVA>M<AYEEQNQATLEEAEQK-EAEFKAMLEQLKK | 441 |
SCN9A | AGKTY-MIFFVVVIFLGSFYLINLILAVVA>M<AYEEQNQANIEEAKQK-ELEFQQMLDRLKK | 432 |
cons | > < | |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|
p.G406R | c.1216G>A |
Inherited Arrhythmia | LQTS | rs79891110 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS |
Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism. Cell. 2004 119(1):19-31.
15454078 |
Inherited Arrhythmia | LQTS |
Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations. Proc Natl Acad Sci U S A. 2005 discussion 8086-8.
15863612 |
Inherited Arrhythmia | LQTS |
Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation. 2007 115(4):442-9.
17224476 |
Inherited Arrhythmia | LQTS |
The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation. J Physiol. 2009 587(Pt 3):551-65.
19074970 |
Inherited Arrhythmia | LQTS |
Mouse model of Timothy syndrome recapitulates triad of autistic traits. Proc Natl Acad Sci U S A. 2011 108(37):15432-7.
21878566 |
Inherited Arrhythmia | LQTS |
Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome. Pediatrics. 2013 131(6):e1991-5. doi: 10.1542/peds.2012-2941.
23690510 |
Inherited Arrhythmia | LQTS |
Timothy syndrome is associated with activity-dependent dendritic retraction in rodent and human neurons. Nat Neurosci. 2013 16(2):201-9. doi: 10.1038/nn.3307.
23313911 |
Inherited Arrhythmia | LQTS |
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118.
23631430 |
Inherited Arrhythmia | LQTS |
Sudden cardiac arrest during anesthesia in a 30-month-old boy with syndactyly: a case of genetically proven Timothy syndrome. J Korean Med Sci. 2013 28(5):788-91. doi: 10.3346/jkms.2013.28.5.788.
23678275 |
Inherited Arrhythmia | LQTS |
Somatic mosaicism contributes to phenotypic variation in Timothy syndrome. Am J Med Genet A. 2011 155A(10):2578-83. doi: 10.1002/ajmg.a.34223.
21910241 |
Inherited Arrhythmia | LQTS |
Inhibition of late sodium current by mexiletine: a novel pharmotherapeutical approach in timothy syndrome. Circ Arrhythm Electrophysiol. 2013 6(3):614-22. doi: 10.1161/CIRCEP.113.000092.
23580742 |