CACNA1C Paralogue Annotation

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.

ResidueDomainKnown Variant Status ConsensusMapped 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 None2 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 None9 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 None2 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 None3 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 None6 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 None9 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 None9 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 None9 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 None9 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 None4 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 None2 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 None9 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 None9 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 None9 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 None9 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 None9 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 None9 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 None9 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 None9 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 None9 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 None2 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)