This page details the annotation of CACNA1C with disease causing variants in the following paralogues: SCN5A, SCN1A, SCN9A, CACNA1F, SCN4A, CACNA1A, CACNA1H, SCN2A, CACNA1S, SCN3A, CACNA1G, SCN8A, SCN10A, CACNA1D, CACNA1E, SCN11A, CACNA1I. Click here to see the multiple sequence alignment of CACNA1C with all paralogues.
The paralogue variant mappings to CACNA1C are based on the Locus Reference Genomic entry for CACNA1C - LRG_334. This is based on the transcript ENST00000399655 and protein ENSP00000382563 (2138 amino acids) for the Ensembl gene ENSG00000151067.
Amino acid residues of CACNA1C with known missense variants are shown below, along with details about the CACNA1C protein domain and known missense variant status for these residues (the number of published reports for the residue is in parentheses), and any disease-causing paralogue missense variants that have been mapped to the residue, including the consensus from the M-Coffee multiple sequence alignment at this mapping and the disease(s) associated with the paralogue variant(s). Click on the residue to see further details about the known CACNA1C variants and the mapped paralogue variants.
Residue | Domain | Known Variant Status | Consensus | Mapped Paralogues and Variant Disease |
---|---|---|---|---|
1-M | N-terminus | Prob. Benign (0) | ||
3-N | N-terminus | Prob. Benign (0) | ||
5-N | N-terminus | None | ||
7-R | N-terminus | Prob. Benign (0) | ||
12-E | N-terminus | Prob. Benign (0) | ||
13-E | N-terminus | Prob. Benign (0) | ||
17-G | N-terminus | Prob. Benign (0) | ||
22-S | N-terminus | Prob. Benign (0) | ||
24-R | N-terminus | Prob. Benign (0) | 3 | SCN10A - Brugada syndrome |
26-A | N-terminus | Prob. Benign (0) | ||
27-H | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
28-A | N-terminus | Arrhythmia (1) | ||
30-M | N-terminus | Prob. Benign (0) | 3 | SCN1A - Generalized epilepsy with febrile seizures plus |
31-N | N-terminus | Prob. Benign (0) | 2 | SCN1A - Generalized epilepsy with febrile seizures plus SCN2A - Autism spectrum disorder SCN5A - Brugada syndrome |
33-N | N-terminus | None | ||
34-A | N-terminus | Other Cardiac (1) | ||
36-A | N-terminus | Prob. Benign (0) | ||
37-G | N-terminus | Conflict (1) | ||
39-A | N-terminus | Arrhythmia (4) | 1 | SCN5A - Arrhythmia, lidocaine-induced, Brugada syndrome |
45-T | N-terminus | Prob. Benign (0) | 2 | SCN5A - Long QT syndrome |
46-P | N-terminus | Prob. Benign (0) | 2 | SCN5A - Long QT syndrome |
48-A | N-terminus | Prob. Benign (0) | ||
52-W | N-terminus | None | ||
57-D | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome |
59-A | N-terminus | None | 2 | SCN1A - Dravet syndrome |
68-A | N-terminus | Prob. Benign (0) | ||
71-A | N-terminus | Prob. Benign (0) | ||
73-I | N-terminus | Prob. Benign (0) | ||
77-S | N-terminus | Prob. Benign (0) | 3 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
79-T | N-terminus | Prob. Benign (0) | ||
81-R | N-terminus | Prob. Benign (0) | ||
83-R | N-terminus | Prob. Benign (0) | ||
84-Q | N-terminus | Prob. Benign (0) | ||
86-Y | N-terminus | Prob. Benign (0) | 5 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
92-Q | N-terminus | Prob. Benign (0) | ||
95-T | N-terminus | Prob. Benign (0) | 6 | SCN5A - Long QT syndrome and generalized epilepsy |
99-R | N-terminus | Prob. Benign (0) | 8 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
105-L | N-terminus | Prob. Benign (0) | ||
114-R | N-terminus | Prob. Benign (0) | 9 | CACNA1F - Congenital stationary night blindness, Night blindness, congenital stationary, incomplete SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
128-I | TM domain 1 | Prob. Benign (0) | ||
133-T | TM domain 1 | Prob. Benign (0) | ||
136-A | TM domain 1 | Prob. Benign (0) | ||
140-A | TM domain 1 | Prob. Benign (0) | ||
144-Y | TM domain 1 | Prob. Benign (0) | ||
153-N | TM domain 1 | Prob. Benign (0) | ||
155-T | TM domain 1 | Prob. Benign (0) | ||
161-R | TM domain 1 | Prob. Benign (0) | ||
171-T | TM domain 1 | Other Cardiac (1) | ||
174-A | TM domain 1 | None | ||
179-I | TM domain 1 | None | ||
180-A | TM domain 1 | None | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
181-Y | TM domain 1 | Prob. Benign (0) | ||
187-P | TM domain 1 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome, Long QT syndrome |
192-R | TM domain 1 | Prob. Benign (0) | 9 | SCN2A - Febrile and afebrile seizures SCN5A - Long QT syndrome SCN9A - Small fibre neuropathy |
194-G | TM domain 1 | Prob. Benign (0) | ||
219-D | TM domain 1 | Prob. Benign (0) | ||
222-N | TM domain 1 | Prob. Benign (0) | ||
226-G | TM domain 1 | Prob. Benign (0) | ||
229-A | TM domain 1 | Prob. Benign (0) | ||
232-D | TM domain 1 | Prob. Benign (0) | 8 | SCN2A - Ohtahara syndrome SCN8A - Epileptic encephalopathy |
235-A | TM domain 1 | Prob. Benign (0) | ||
251-V | TM domain 1 | Prob. Benign (0) | 9 | SCN9A - Dravet syndrome ? |
261-I | TM domain 1 | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
289-L | TM domain 1 | Prob. Benign (0) | 9 | SCN9A - Febrile seizures |
300-N | TM domain 1 | Arrhythmia (1) | 7 | SCN5A - Brugada syndrome |
301-Q | TM domain 1 | Prob. Benign (0) | ||
304-I | TM domain 1 | Benign (0) | ||
308-P | TM domain 1 | Prob. Benign (0) | ||
310-E | TM domain 1 | Prob. Benign (0) | 4 | SCN5A - Long QT syndrome |
317-A | TM domain 1 | Prob. Benign (0) | ||
318-L | TM domain 1 | Prob. Benign (0) | ||
319-E | TM domain 1 | Prob. Benign (0) | ||
320-T | TM domain 1 | Prob. Benign (0) | 4 | SCN1A - Dravet syndrome |
329-G | TM domain 1 | None | ||
330-T | TM domain 1 | Prob. Benign (0) | 7 | SCN1A - Dravet syndrome |
344-T | TM domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
368-V | TM domain 1 | Prob. Benign (0) | ||
372-V | TM domain 1 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
373-N | TM domain 1 | Prob. Benign (0) | ||
376-V | TM domain 1 | Prob. Benign (0) | 8 | SCN1A - Cryptogenic generalised epilepsy |
378-R | TM domain 1 | Prob. Benign (0) | ||
379-D | TM domain 1 | Prob. Benign (0) | ||
380-W | TM domain 1 | Prob. Benign (0) | ||
381-P | TM domain 1 | None | ||
383-I | TM domain 1 | Prob. Benign (0) | ||
384-Y | TM domain 1 | Prob. Benign (0) | ||
387-T | TM domain 1 | Prob. Benign (0) | ||
389-I | TM domain 1 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome, Long QT syndrome, Sudden unexpected death in epilepsy |
391-I | TM domain 1 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
394-F | TM domain 1 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN1A - Generalized epilepsy with febrile seizures plus |
396-V | TM domain 1 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN5A - Long QT syndrome |
402-G | TM domain 1 | Arrhythmia (5) | 9 | CACNA1D - Primary aldosteronism CACNA1F - Night blindness, congenital stationary, incomplete SCN1A - Generalized epilepsy with febrile seizures plus SCN8A - Epileptic encephalopathy, early infantile with mov |
406-G | Interdomain Linker I-II | Arrhythmia (11) | 9 | CACNA1D - Autism |
418-R | Interdomain Linker I-II | None | ||
419-G | Interdomain Linker I-II | Prob. Benign (0) | ||
434-L | Interdomain Linker I-II | Prob. Benign (0) | 3 | CACNA1A - Episodic ataxia 2 |
438-L | Interdomain Linker I-II | Prob. Benign (0) | 4 | SCN5A - Atrial fibrillation |
448-D | Interdomain Linker I-II | None | ||
450-E | Interdomain Linker I-II | Prob. Benign (0) | 2 | CACNA1A - Spinocerebellar ataxia 6 |
454-E | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN5A - Sudden infant death syndrome |
456-M | Interdomain Linker I-II | Prob. Benign (0) | 2 | CACNA1A - Episodic ataxia 2 |
461-P | Interdomain Linker I-II | Prob. Benign (0) | ||
462-R | Interdomain Linker I-II | None | 2 | SCN5A - Long QT syndrome |
466-M | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN9A - Dravet syndrome |
469-S | Interdomain Linker I-II | Prob. Benign (0) | 1 | SCN1A - Myoclonic epilepsy of infancy |
472-E | Interdomain Linker I-II | Prob. Benign (0) | 2 | SCN2A - Autism spectrum disorder SCN5A - Brugada syndrome |
474-V | Interdomain Linker I-II | Prob. Benign (0) | ||
477-E | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN5A - Brugada syndrome |
479-V | Interdomain Linker I-II | Prob. Benign (0) | ||
481-G | Interdomain Linker I-II | None | ||
485-E | Interdomain Linker I-II | Prob. Benign (0) | ||
486-G | Interdomain Linker I-II | Prob. Benign (0) | ||
487-E | Interdomain Linker I-II | Prob. Benign (0) | ||
490-G | Interdomain Linker I-II | Arrhythmia (5) | ||
493-L | Interdomain Linker I-II | Prob. Benign (0) | ||
494-A | Interdomain Linker I-II | None | 3 | SCN1A - Dravet syndrome |
495-H | Interdomain Linker I-II | Prob. Benign (0) | ||
496-R | Interdomain Linker I-II | Prob. Benign (0) | 3 | SCN5A - Long QT syndrome |
504-R | Interdomain Linker I-II | Prob. Benign (0) | 6 | CACNA1H - Epilepsy, childhood absence |
507-R | Interdomain Linker I-II | Prob. Benign (0) | ||
508-R | Interdomain Linker I-II | Prob. Benign (0) | 5 | SCN5A - Long QT syndrome |
511-R | Interdomain Linker I-II | None | 6 | SCN9A - Small fibre neuropathy |
516-K | Interdomain Linker I-II | Prob. Benign (0) | 8 | SCN5A - Long QT syndrome |
518-R | Interdomain Linker I-II | Arrhythmia (2) | 9 | SCN1A - Dravet syndrome C ? |
519-A | Interdomain Linker I-II | Prob. Benign (0) | ||
520-A | Interdomain Linker I-II | Prob. Benign (0) | ||
528-W | TM domain 2 | Prob. Benign (0) | ||
530-V | TM domain 2 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN9A - Febrile seizures ? |
547-N | TM domain 2 | Arrhythmia (1) | ||
550-N | TM domain 2 | Prob. Benign (0) | ||
558-T | TM domain 2 | Prob. Benign (0) | ||
565-A | TM domain 2 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome |
568-T | TM domain 2 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome B ?, Myoclonic epilepsy of infancy |
577-S | TM domain 2 | Prob. Benign (0) | 9 | CACNA1A - Episodic ataxia |
582-A | TM domain 2 | Arrhythmia (1) | ||
585-V | TM domain 2 | Prob. Benign (0) | ||
590-R | TM domain 2 | Arrhythmia (1) | 9 | CACNA1S - Exertional heat illness, Takotsubo (stress) cardiomyopathy |
595-V | TM domain 2 | Prob. Benign (0) | ||
596-V | TM domain 2 | Prob. Benign (0) | 6 | SCN5A - Brugada syndrome |
608-T | TM domain 2 | Prob. Benign (0) | ||
610-I | TM domain 2 | Prob. Benign (0) | ||
618-V | TM domain 2 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine, Hemiplegic migraine, cerebellar dysfunction & cogn |
622-V | TM domain 2 | Prob. Benign (0) | 9 | SCN4A - Myotonia, non-dystrophic SCN8A - Migrating partial seizures of infancy |
624-L | TM domain 2 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome SCN5A - Brugada syndrome |
629-K | TM domain 2 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome |
644-L | TM domain 2 | None | 9 | SCN4A - Myotonia & paralytic episodes, Myotonia, sodium channel, Paramyotonia congenita SCN9A - Erythermalgia, primary |
647-S | TM domain 2 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome |
649-R | TM domain 2 | None | 9 | SCN11A - Painful peripheral neuropathy SCN2A - Epileptic encephalopathy, early infantile |
679-F | TM domain 2 | Prob. Benign (0) | 6 | SCN5A - Brugada syndrome |
690-D | TM domain 2 | Prob. Benign (0) | 9 | SCN1A - Generalized epilepsy with febrile seizures plus |
700-F | TM domain 2 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
705-G | TM domain 2 | None | 9 | SCN1A - Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
730-C | TM domain 2 | Prob. Benign (0) | ||
745-L | TM domain 2 | None | ||
751-I | TM domain 2 | None | 9 | CACNA1A - Episodic seizures, ataxia, and migraine with motor CACNA1D - Primary aldosteronism CACNA1F - Retinal disorder, X-linked SCN1A - Dravet syndrome |
765-A | Interdomain Linker II-III | Prob. Benign (0) | ||
766-Q | Interdomain Linker II-III | Prob. Benign (0) | ||
770-E | Interdomain Linker II-III | Prob. Benign (0) | ||
771-E | Interdomain Linker II-III | Prob. Benign (1) | 4 | SCN2A - Epileptic encephalopathy, early infantile, Ohtahara syndrome |
776-K | Interdomain Linker II-III | None | 4 | SCN5A - Long QT syndrome |
779-A | Interdomain Linker II-III | Prob. Benign (0) | ||
784-P | Interdomain Linker II-III | Prob. Benign (0) | ||
785-E | Interdomain Linker II-III | Prob. Benign (0) | ||
788-Q | Interdomain Linker II-III | Prob. Benign (0) | ||
799-S | Interdomain Linker II-III | Prob. Benign (0) | ||
800-K | Interdomain Linker II-III | Prob. Benign (0) | 2 | SCN5A - Cardiac conduction disease |
805-E | Interdomain Linker II-III | Prob. Benign (0) | ||
810-T | Interdomain Linker II-III | None | ||
813-G | Interdomain Linker II-III | Prob. Benign (0) | ||
817-P | Interdomain Linker II-III | Conflict (1) | ||
823-M | Interdomain Linker II-III | None | 2 | SCN4A - paramyotonia congenita |
829-N | Interdomain Linker II-III | Prob. Benign (0) | ||
834-K | Interdomain Linker II-III | Arrhythmia (1) | ||
836-P | Interdomain Linker II-III | Prob. Benign (0) | ||
839-N | Interdomain Linker II-III | Prob. Benign (0) | ||
849-E | Interdomain Linker II-III | Prob. Benign (0) | 2 | CACNA1H - Idiopathic epilepsy, generalised SCN2A - Acute encephalitis with refractory, repetitive par |
850-E | Interdomain Linker II-III | Prob. Benign (0) | ||
855-V | Interdomain Linker II-III | Prob. Benign (0) | ||
856-G | Interdomain Linker II-III | Prob. Benign (0) | ||
857-P | Interdomain Linker II-III | Arrhythmia (2) | 1 | SCN5A - Brugada syndrome and epilepsy, Long QT syndrome |
858-R | Interdomain Linker II-III | Arrhythmia (3) | ||
860-R | Interdomain Linker II-III | Arrhythmia (1) | 1 | SCN10A - Sudden unexplained death |
861-P | Interdomain Linker II-III | None | ||
865-L | Interdomain Linker II-III | Prob. Benign (0) | ||
869-E | Interdomain Linker II-III | Prob. Benign (0) | ||
884-S | Interdomain Linker II-III | Prob. Benign (0) | ||
888-R | Interdomain Linker II-III | Prob. Benign (0) | 8 | SCN5A - Sudden unexplained nocturnal death syndrome |
892-Q | Interdomain Linker II-III | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
895-R | Interdomain Linker II-III | None | 9 | SCN1A - Intractable epilepsy, Myoclonic epilepsy of infancy |
899-D | Interdomain Linker II-III | Prob. Benign (0) | ||
901-I | TM domain 3 | Prob. Benign (0) | 9 | CACNA1A - Hemiplegic migraine SCN5A - Sudden cardiac death |
912-L | TM domain 3 | None | 9 | SCN1A - Generalized epilepsy with febrile seizures plus ? |
915-I | TM domain 3 | Prob. Benign (0) | 9 | CACNA1S - Takotsubo (stress) cardiomyopathy SCN1A - Myoclonic epilepsy of infancy |
932-I | TM domain 3 | None | ||
938-I | TM domain 3 | Prob. Benign (0) | ||
939-V | TM domain 3 | Prob. Benign (0) | ||
942-T | TM domain 3 | Prob. Benign (0) | ||
943-I | TM domain 3 | None | 9 | SCN5A - Brugada syndrome |
946-I | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy |
976-V | TM domain 3 | Prob. Benign (0) | 9 | SCN10A - Brugada syndrome SCN5A - Long QT syndrome |
984-F | TM domain 3 | Prob. Benign (0) | ||
986-I | TM domain 3 | Prob. Benign (0) | 7 | SCN9A - Dravet syndrome ? |
994-V | TM domain 3 | Prob. Benign (0) | ||
1022-V | TM domain 3 | Prob. Benign (0) | 9 | SCN2A - Neonatal-infantile seizures |
1025-A | TM domain 3 | Prob. Benign (0) | 9 | CACNA1A - Encephalopathy, epileptic SCN4A - Paramyotonia congenita SCN5A - Long QT syndrome SCN8A - Epileptic encephalopathy, infantile |
1027-R | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Epilepsy of infancy with migrating focal seizures, Epileptic encephalopathy, early onset SCN4A - Hypokalaemic periodic paralysis, Myotonia SCN5A - Long QT syndrome SCN9A - Erythermalgia, primary |
1043-F | TM domain 3 | Prob. Benign (0) | ||
1046-I | TM domain 3 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome |
1067-A | TM domain 3 | Prob. Benign (0) | ||
1074-I | TM domain 3 | None | ||
1075-T | TM domain 3 | Prob. Benign (0) | 4 | SCN1A - Generalised epilepsy with febrile seizures plus 2, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
1078-D | TM domain 3 | Prob. Benign (0) | 4 | CACNA1I - Schizophrenia SCN1A - Myoclonic epilepsy of infancy |
1079-G | TM domain 3 | Prob. Benign (0) | 4 | SCN1A - Dravet syndrome C ? SCN5A - Brugada syndrome |
1085-I | TM domain 3 | Prob. Benign (0) | 3 | SCN10A - Brugada syndrome |
1099-D | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
1110-T | TM domain 3 | Prob. Benign (0) | 9 | CACNA1S - Malignant hyperthermia SCN1A - Myoclonic epilepsy of infancy |
1115-E | TM domain 3 | Arrhythmia (1) | 9 | SCN1A - Dravet syndrome SCN2A - Spasms, infantile, and bitemporal glucose hypometa SCN5A - Brugada syndrome |
1116-G | TM domain 3 | None | 9 | SCN1A - Dravet syndrome, Dravet syndrome C ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome, Brugada syndrome ? |
1123-R | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Autism spectrum disorder, Dravet syndrome SCN5A - Brugada syndrome |
1125-I | TM domain 3 | None | ||
1129-T | TM domain 3 | Prob. Benign (0) | 9 | SCN5A - Brugada syndrome, Early repolarization syndrome |
1131-D | TM domain 3 | Prob. Benign (0) | ||
1135-I | TM domain 3 | Prob. Benign (0) | ||
1139-R | TM domain 3 | Other Disease (1) | 9 | SCN5A - Brugada syndrome |
1142-I | TM domain 3 | Prob. Benign (0) | ||
1152-I | TM domain 3 | Prob. Benign (0) | ||
1153-I | TM domain 3 | Prob. Benign (0) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN8A - Intellectual disability and epilepsy |
1154-A | TM domain 3 | None | 9 | SCN10A - Brugada syndrome SCN1A - Dravet syndrome SCN5A - Long QT syndrome |
1166-I | TM domain 3 | Arrhythmia (7) | 9 | SCN1A - Epilepsy ? SCN2A - Neonatal-infantile seizures |
1167-V | TM domain 3 | None | 9 | SCN1A - Dravet syndrome |
1170-Q | TM domain 3 | Prob. Benign (0) | ||
1187-R | Interdomain Linker III-IV | Prob. Benign (0) | 3 | CACNA1S - Hypokalaemic periodic paralysis, Malignant hyperthermia SCN5A - Long QT syndrome |
1200-R | Interdomain Linker III-IV | Prob. Benign (0) | ||
1205-K | Interdomain Linker III-IV | Prob. Benign (0) | 5 | SCN4A - Myotonia, sodium channel SCN5A - Brugada syndrome |
1209-Q | Interdomain Linker III-IV | Prob. Benign (0) | ||
1211-K | Interdomain Linker III-IV | None | 9 | SCN5A - Cardiomyopathy, dilated |
1215-V | Interdomain Linker III-IV | Prob. Benign (0) | ||
1226-F | Interdomain Linker III-IV | Prob. Benign (0) | 9 | SCN4A - Hyperkalaemic periodic paralysis |
1227-V | Interdomain Linker III-IV | Prob. Benign (0) | ||
1231-L | Interdomain Linker III-IV | Prob. Benign (0) | ||
1234-I | Interdomain Linker III-IV | Prob. Benign (0) | 9 | SCN5A - Cardiomyopathy, dilated |
1235-C | Interdomain Linker III-IV | Prob. Benign (0) | 9 | SCN5A - Long QT syndrome |
1247-F | TM domain 4 | Prob. Benign (0) | 9 | SCN9A - Small fibre neuropathy |
1249-I | TM domain 4 | Prob. Benign (0) | ||
1250-A | TM domain 4 | Prob. Benign (0) | ||
1264-V | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome |
1271-I | TM domain 4 | Prob. Benign (0) | ||
1277-H | TM domain 4 | Prob. Benign (0) | 9 | CACNA1H - Epilepsy with auditory features |
1280-C | TM domain 4 | Prob. Benign (0) | ||
1288-A | TM domain 4 | Prob. Benign (0) | 9 | SCN5A - Long QT syndrome |
1292-V | TM domain 4 | None | ||
1302-E | TM domain 4 | None | ||
1310-Q | TM domain 4 | None | ||
1312-S | TM domain 4 | Prob. Benign (0) | ||
1315-M | TM domain 4 | Prob. Benign (0) | ||
1317-A | TM domain 4 | Prob. Benign (0) | ||
1321-S | TM domain 4 | Prob. Benign (0) | ||
1347-R | TM domain 4 | Prob. Benign (0) | 9 | CACNA1A - Episodic ataxia 2 SCN1A - Cryptogenic focal epilepsy, Generalized epilepsy with febrile seizures plus SCN5A - Brugada syndrome, Long QT syndrome |
1360-L | TM domain 4 | None | 9 | SCN2A - Encephalopathy, recurrent |
1375-A | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Febrile seizures, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
1386-A | TM domain 4 | Prob. Benign (0) | ||
1389-D | TM domain 4 | Prob. Benign (0) | ||
1406-V | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Dravet syndrome, Myoclonic epilepsy of infancy |
1430-K | TM domain 4 | Prob. Benign (0) | ||
1437-P | TM domain 4 | Prob. Benign (0) | ||
1441-T | TM domain 4 | None | ||
1446-P | TM domain 4 | Prob. Benign (0) | ||
1452-A | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Febrile seizures ?, Myoclonic epilepsy of infancy SCN5A - Brugada syndrome |
1457-I | TM domain 4 | Prob. Benign (0) | ||
1461-M | TM domain 4 | Prob. Benign (0) | 9 | SCN1A - Cryptogenic focal epilepsy, Dravet syndrome |
1465-F | TM domain 4 | None | 9 | SCN5A - Long QT syndrome |
1473-A | TM domain 4 | Arrhythmia (1) | 9 | SCN1A - Myoclonic epilepsy of infancy SCN9A - Erythromelalgia |
1475-I | TM domain 4 | Arrhythmia (1) | 9 | CACNA1A - Hemiplegic migraine and episodic ataxia 2 |
1483-T | TM domain 4 | Prob. Benign (0) | 9 | SCN5A - Long QT syndrome |
1496-E | TM domain 4 | Arrhythmia (1) | ||
1502-A | TM domain 4 | Prob. Benign (0) | ||
1522-R | TM domain 4 | Other Disease (1) | 9 | SCN5A - Long QT syndrome |
1542-R | C-terminus | Prob. Benign (0) | ||
1545-S | C-terminus | Prob. Benign (0) | ||
1554-G | C-terminus | None | ||
1560-A | C-terminus | Prob. Benign (0) | 7 | SCN1A - Generalized epilepsy with febrile seizures plus |
1564-A | C-terminus | Prob. Benign (0) | ||
1566-V | C-terminus | Prob. Benign (0) | ||
1568-T | C-terminus | Prob. Benign (0) | 8 | SCN5A - Long QT syndrome |
1573-K | C-terminus | Prob. Benign (0) | ||
1586-R | C-terminus | Prob. Benign (0) | 4 | SCN4A - Paramyotonia congenita SCN8A - Epilepsy |
1587-A | C-terminus | Prob. Benign (0) | ||
1591-K | C-terminus | None | ||
1607-P | C-terminus | Arrhythmia (1) | 4 | SCN1A - Myoclonic epilepsy of infancy |
1613-V | C-terminus | Prob. Benign (0) | 5 | SCN3A - Autism spectrum disorder SCN5A - Long QT syndrome |
1615-V | C-terminus | Prob. Benign (0) | ||
1634-R | C-terminus | Prob. Benign (0) | ||
1637-Q | C-terminus | Prob. Benign (0) | ||
1643-P | C-terminus | None | 2 | CACNA1S - Hypokalaemic periodic paralysis with malignant hyp |
1644-S | C-terminus | Prob. Benign (0) | ||
1647-N | C-terminus | Prob. Benign (0) | ||
1648-A | C-terminus | Prob. Benign (0) | ||
1649-L | C-terminus | Prob. Benign (0) | ||
1656-R | C-terminus | Prob. Benign (0) | 1 | SCN1A - Autism ? |
1661-I | C-terminus | Prob. Benign (0) | 1 | SCN5A - Brugada syndrome, Long QT syndrome |
1662-G | C-terminus | Prob. Benign (0) | ||
1667-R | C-terminus | Prob. Benign (0) | ||
1671-G | C-terminus | Prob. Benign (0) | 2 | CACNA1A - Hemiplegic migraine |
1672-D | C-terminus | Prob. Benign (0) | ||
1673-L | C-terminus | Prob. Benign (0) | ||
1675-A | C-terminus | Prob. Benign (0) | ||
1678-E | C-terminus | None | ||
1682-A | C-terminus | Prob. Benign (0) | ||
1685-E | C-terminus | Prob. Benign (0) | ||
1687-V | C-terminus | Prob. Benign (0) | ||
1689-A | C-terminus | Prob. Benign (0) | 1 | SCN5A - Long QT syndrome |
1700-G | C-terminus | Prob. Benign (0) | 2 | SCN5A - Brugada syndrome ? |
1704-G | C-terminus | Prob. Benign (0) | ||
1707-V | C-terminus | Prob. Benign (0) | ||
1709-Y | C-terminus | Prob. Benign (0) | ||
1710-Y | C-terminus | Prob. Benign (0) | 2 | SCN5A - Long QT syndrome |
1713-D | C-terminus | Prob. Benign (0) | ||
1714-G | C-terminus | Prob. Benign (0) | ||
1715-R | C-terminus | Prob. Benign (0) | ||
1717-A | C-terminus | Benign (0) | ||
1720-Q | C-terminus | Prob. Benign (0) | ||
1721-T | C-terminus | Prob. Benign (0) | ||
1722-F | C-terminus | Prob. Benign (0) | ||
1726-R | C-terminus | Prob. Benign (0) | ||
1729-H | C-terminus | Prob. Benign (0) | ||
1730-I | C-terminus | Prob. Benign (0) | ||
1733-A | C-terminus | Other Cardiac (1) | ||
1739-D | C-terminus | Prob. Benign (0) | ||
1742-S | C-terminus | Prob. Benign (0) | ||
1745-H | C-terminus | Prob. Benign (0) | ||
1746-E | C-terminus | Prob. Benign (0) | ||
1752-T | C-terminus | Prob. Benign (0) | ||
1755-P | C-terminus | Prob. Benign (0) | ||
1757-S | C-terminus | Prob. Benign (0) | ||
1759-S | C-terminus | Prob. Benign (0) | ||
1762-G | C-terminus | Prob. Benign (0) | ||
1765-A | C-terminus | Prob. Benign (0) | ||
1774-A | C-terminus | Prob. Benign (0) | ||
1777-R | C-terminus | Prob. Benign (0) | ||
1780-R | C-terminus | Arrhythmia (1) | ||
1782-A | C-terminus | Prob. Benign (0) | ||
1783-G | C-terminus | Prob. Benign (0) | ||
1785-P | C-terminus | Prob. Benign (0) | ||
1787-T | C-terminus | Benign (0) | ||
1788-V | C-terminus | Prob. Benign (0) | ||
1792-E | C-terminus | Prob. Benign (0) | ||
1795-G | C-terminus | Benign (0) | ||
1796-P | C-terminus | Prob. Benign (0) | ||
1797-P | C-terminus | Prob. Benign (0) | ||
1800-P | C-terminus | Prob. Benign (0) | ||
1802-I | C-terminus | Prob. Benign (0) | ||
1803-R | C-terminus | Prob. Benign (0) | ||
1804-V | C-terminus | Prob. Benign (0) | ||
1806-E | C-terminus | Prob. Benign (0) | ||
1814-N | C-terminus | Prob. Benign (0) | ||
1815-R | C-terminus | Prob. Benign (0) | ||
1819-R | C-terminus | Prob. Benign (0) | ||
1820-E | C-terminus | Prob. Benign (0) | ||
1822-Q | C-terminus | Prob. Benign (0) | 1 | CACNA1A - Episodic ataxia 2 |
1823-A | C-terminus | Prob. Benign (0) | ||
1826-A | C-terminus | Prob. Benign (0) | ||
1831-T | C-terminus | Prob. Benign (0) | ||
1834-D | C-terminus | Prob. Benign (0) | ||
1839-V | C-terminus | Prob. Benign (0) | ||
1840-K | C-terminus | Prob. Benign (0) | ||
1842-N | C-terminus | None | ||
1843-H | C-terminus | Prob. Benign (0) | ||
1845-T | C-terminus | Prob. Benign (0) | ||
1850-E | C-terminus | Prob. Benign (0) | ||
1859-L | C-terminus | Prob. Benign (0) | ||
1863-D | C-terminus | Prob. Benign (0) | ||
1865-E | C-terminus | Benign (0) | ||
1867-R | C-terminus | Prob. Benign (0) | ||
1870-T | C-terminus | Benign (0) | ||
1873-E | C-terminus | Prob. Benign (0) | ||
1876-K | C-terminus | None | ||
1878-D | C-terminus | Prob. Benign (0) | ||
1880-R | C-terminus | Arrhythmia (4) | ||
1881-Q | C-terminus | Prob. Benign (0) | ||
1882-S | C-terminus | Prob. Benign (0) | ||
1883-P | C-terminus | Prob. Benign (0) | ||
1886-G | C-terminus | Prob. Benign (0) | ||
1889-R | C-terminus | Conflict (2) | ||
1891-A | C-terminus | Prob. Benign (0) | ||
1894-G | C-terminus | Prob. Benign (0) | ||
1895-R | C-terminus | Prob. Benign (0) | ||
1905-K | C-terminus | Prob. Benign (0) | ||
1906-R | C-terminus | Arrhythmia (1) | ||
1909-D | C-terminus | Prob. Benign (0) | ||
1910-R | C-terminus | Prob. Benign (0) | ||
1911-G | C-terminus | Arrhythmia (2) | ||
1913-D | C-terminus | Prob. Benign (0) | ||
1914-I | C-terminus | Prob. Benign (0) | ||
1916-Q | C-terminus | Other Cardiac (1) | ||
1927-H | C-terminus | Prob. Benign (0) | ||
1929-A | C-terminus | Prob. Benign (0) | ||
1930-L | C-terminus | Prob. Benign (0) | ||
1936-S | C-terminus | Prob. Benign (0) | ||
1939-L | C-terminus | Prob. Benign (0) | ||
1940-Q | C-terminus | Prob. Benign (0) | ||
1943-H | C-terminus | Prob. Benign (0) | ||
1945-P | C-terminus | Prob. Benign (0) | ||
1946-A | C-terminus | Prob. Benign (0) | ||
1947-S | C-terminus | Prob. Benign (0) | ||
1949-P | C-terminus | Prob. Benign (0) | ||
1953-A | C-terminus | Prob. Benign (0) | ||
1958-T | C-terminus | Prob. Benign (0) | ||
1959-P | C-terminus | Prob. Benign (0) | ||
1962-R | C-terminus | Prob. Benign (0) | ||
1963-G | C-terminus | Prob. Benign (0) | ||
1969-V | C-terminus | Prob. Benign (0) | ||
1971-T | C-terminus | Prob. Benign (0) | ||
1972-L | C-terminus | Prob. Benign (0) | ||
1973-R | C-terminus | Conflict (1) | ||
1974-L | C-terminus | Prob. Benign (0) | ||
1976-G | C-terminus | Prob. Benign (0) | ||
1977-V | C-terminus | None | ||
1978-E | C-terminus | Prob. Benign (0) | ||
1980-S | C-terminus | Prob. Benign (0) | ||
1986-S | C-terminus | Prob. Benign (0) | ||
1990-I | C-terminus | Prob. Benign (0) | ||
1992-C | C-terminus | Prob. Benign (0) | ||
1996-A | C-terminus | Prob. Benign (0) | ||
1998-T | C-terminus | Prob. Benign (0) | ||
1999-T | C-terminus | Prob. Benign (0) | ||
2000-P | C-terminus | Prob. Benign (0) | ||
2001-G | C-terminus | Prob. Benign (0) | ||
2003-G | C-terminus | None | ||
2004-G | C-terminus | Prob. Benign (0) | ||
2007-A | C-terminus | Prob. Benign (0) | ||
2008-A | C-terminus | Prob. Benign (0) | ||
2009-R | C-terminus | Prob. Benign (0) | ||
2010-R | C-terminus | Prob. Benign (0) | ||
2011-V | C-terminus | Prob. Benign (0) | ||
2012-R | C-terminus | Prob. Benign (0) | ||
2014-V | C-terminus | Arrhythmia (4) | ||
2017-M | C-terminus | None | ||
2019-P | C-terminus | Prob. Benign (0) | ||
2020-S | C-terminus | Prob. Benign (0) | ||
2022-A | C-terminus | Prob. Benign (0) | ||
2023-G | C-terminus | Prob. Benign (0) | ||
2026-G | C-terminus | None | ||
2028-Q | C-terminus | Prob. Benign (0) | ||
2039-A | C-terminus | Prob. Benign (0) | ||
2050-A | C-terminus | Prob. Benign (0) | ||
2051-Q | C-terminus | Prob. Benign (0) | ||
2054-K | C-terminus | Prob. Benign (0) | ||
2057-E | C-terminus | Prob. Benign (0) | ||
2068-D | C-terminus | Prob. Benign (0) | 3 | CACNA1F - MRX |
2071-I | C-terminus | Prob. Benign (0) | ||
2075-E | C-terminus | Prob. Benign (0) | ||
2076-S | C-terminus | Prob. Benign (0) | ||
2077-A | C-terminus | Prob. Benign (0) | ||
2079-D | C-terminus | Prob. Benign (0) | ||
2080-N | C-terminus | None | ||
2085-G | C-terminus | Prob. Benign (0) | ||
2089-S | C-terminus | Prob. Benign (0) | ||
2091-N | C-terminus | Conflict (1) | ||
2092-G | C-terminus | Prob. Benign (0) | ||
2102-D | C-terminus | Prob. Benign (0) | ||
2103-A | C-terminus | Prob. Benign (0) | ||
2107-R | C-terminus | Prob. Benign (0) | ||
2110-G | C-terminus | Prob. Benign (0) | ||
2113-D | C-terminus | Prob. Benign (0) | ||
2115-G | C-terminus | Prob. Benign (0) | ||
2117-V | C-terminus | Prob. Benign (0) | ||
2118-R | C-terminus | Prob. Benign (0) | ||
2121-G | C-terminus | Prob. Benign (0) | ||
2122-R | C-terminus | Prob. Benign (0) | ||
2124-S | C-terminus | None | ||
2127-E | C-terminus | Prob. Benign (0) | 2 | SCN5A - Cardiomyopathy, dilated ? |
2130-D | C-terminus | Arrhythmia (1) | ||
2131-S | C-terminus | Prob. Benign (0) |