| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN5A | R43Q | Arrhythmia, lidocaine-induced | Medium | 1 | 18848812, 18984535, 19716085 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in CACNA1C.
| CACNA1C | ----PR-PAHANMN--------A-NAAAGL>A<----PEH--IPTPGAALSWQAAIDAARQAK | 63 |
| CACNA1A | ----GGSGAAAGV-------------VVGS>G<-GGRGAG--GSRQGGQ--------PGA--- | 44 |
| CACNA1B | ----PGGGERA-----------------RG>G<-GAGGAG--GPGPGGLQ-------PGQ--- | 41 |
| CACNA1D | H--ANE-ANYARGT--------R-LPLSGE>G<----PTSQPNSSKQTVLSWQAAIDAARQAK | 64 |
| CACNA1E | -------GDGD----------------SD->Q<-SRNRQG--TPVPA----------SGQ--- | 35 |
| CACNA1F | ----PE-PSPAN--------------GAGP>G<----PEWGLCPGP----P-------AV--- | 35 |
| CACNA1G | -R-S---------F--------M--RLND->-<----LSG--AGGRP-----------G---- | 33 |
| CACNA1H | VGASPESPGAPGRE--------A--ERGS->-<----ELG--VSPSE-----------S---- | 53 |
| CACNA1I | APAA------------------E--PGVTT>E<----QPG--P--RS--P-------PS---- | 33 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| SCN10A | RRFTPESLVEIEKQIAAKQGT-KKARE-KH>R<E-QKDQE--EKPRPQLDLKACNQLPKFYGE | 69 |
| SCN11A | RPFTSDSLAAIEKRIAIQ-KEKKKSK---->-<D-QTGEV--PQPRPQLDLKASRKLPKLYGD | 68 |
| SCN1A | NFFTRESLAAIERRIAEE-KAKNPKPD--->-<K-KDDDE--NGPKPNSDLEAGKNLPFIYGD | 67 |
| SCN2A | RFFTRESLAAIEQRIAEE-KAKRPKQE--->-<RKDEDDE--NGPKPNSDLEAGKSLPFIYGD | 68 |
| SCN3A | RLFTRESLAAIEKRAAEE-KAKKPKKE--->-<Q-DNDDE--NKPKPNSDLEAGKNLPFIYGD | 67 |
| SCN4A | RPFTRESLAAIEQRAVEE-EARLQRNK--->-<Q-MEIEE--PERKPRSDLEAGKNLPMIYGD | 70 |
| SCN5A | RRFTRESLAAIEKRMAEK-QARGSTTLQES>R<E-GLPEE--EAPRPQLDLQASKKLPDLYGN | 70 |
| SCN7A | VPFTKESFELIKQHIAKT--------H--->-<N-EDHEE--EDLKPTPDLEVGKKLPFIYGN | 56 |
| SCN8A | KPFTPESLANIERRIAES-KLKKPPKADGS>H<R-EDDED--SKPKPNSDLEAGKSLPFIYGD | 71 |
| SCN9A | VHFTKQSLALIEQRIAER-KSKEPKEE--->-<K-KDDDE--EAPKPSSDLEAGKQLPFIYGD | 65 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A39V | c.116C>T | Inherited Arrhythmia | BrS | rs121912776 | SIFT: deleterious Polyphen: possibly damaging |
| Reports | Inherited Arrhythmia | BrS | 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 | BrS | Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm. 2010 7(12):1872-82. 20817017 | |||
| Inherited Arrhythmia | BrS | The Brugada syndrome mutation A39V does not affect surface expression of neuronal rat Cav1.2 channels. Mol Brain. 2012 5:9. 22385640 | |||
| Inherited Arrhythmia | BrS | Effect of the Brugada syndrome mutation A39V on calmodulin regulation of Cav1.2 channels. Mol Brain. 2014 7:34. doi: 10.1186/1756-6606-7-34. 24775099 | |||