| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN2A | E999K | Ohtahara syndrome | High | 4 | 23935176, 26648591 |
| SCN2A | E999V | Epileptic encephalopathy, early infantile | High | 4 | 26993267 |
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 | NYILLNVFLAIAVDNLADAESLTSAQKEEE>E<E-KERKK-LART---AS------------- | 783 |
| CACNA1A | NYTLLNVFLAIAVDNLANAQELTKDEQEEE>E<A-ANQKL-ALQKAKEVAEVSPLSAANMS-- | 758 |
| CACNA1B | NYTLLNVFLAIAVDNLANAQELTKDEEEME>E<A-ANQKL-ALQKAKEVAEVSPMSAANIS-- | 754 |
| CACNA1D | NYILLNVFLAIAVDNLADAESLNTAQKEEA>E<E-KERKK-IARK---ES------------- | 802 |
| CACNA1E | NYTLLNVFLAIAVDNLANAQELTKDEQEEE>E<A-FNQKH-ALQKAKEVSPMSAPNMPSIERD | 749 |
| CACNA1F | NYILLNVFLAIAVDNLASGDA-GTAKDKGG>E<K-SNEKDLPQEN---EG------------- | 788 |
| CACNA1G | NYVLFNLLVAILVEGFQ-AEEISKREDASG>Q<L-SCIQL-PVDSQGGDANKS---------- | 999 |
| CACNA1H | NYVLFNLLVAILVEGFQ-AEGDANRSDTDE>D<KTSVHFEEDFHKL----------------- | 1045 |
| CACNA1I | NYVLFNLLVAILVEGFQAEGDAN-RSYSDE>D<QSSSNIE-EFDKLQE--------------- | 893 |
| CACNA1S | NYILLNVFLAIAVDNLAEAESLTSAQKAKA>E<E-KKRRK-MSKGLPDKS------------- | 694 |
| SCN10A | NLVVLNLFIALLLNSFS-ADNLTAP-EDDG>E<V-NNLQV-ALARIQV---FGH--------- | 922 |
| SCN11A | KLVVLNLFIALLLNSFS-NEERNGNLEGEA>R<K-TKVQL-ALDRFRRAFCFVR--------- | 847 |
| SCN1A | NLVVLNLFLALLLSSFS-ADNLAAT-DDDN>E<M-NNLQI-AVDRMHKGVAYVK--------- | 1027 |
| SCN2A | NLVVLNLFLALLLSSFS-SDNLAAT-DDDN>E<M-NNLQI-AVGRMQKGIDFVK--------- | 1018 |
| SCN3A | NLVVLNLFLALLLSSFS-SDNLAAT-DDDN>E<M-NNLQI-AVGRMQKGIDYVK--------- | 1019 |
| SCN4A | NLVVLNLFLALLLSSFS-ADSLAAS-DEDG>E<M-NNLQI-AIGRIKLGIGFAK--------- | 837 |
| SCN5A | NLVVLNLFLALLLSSFS-ADNLTAP-DEDR>E<M-NNLQL-ALARIQRGLRFVK--------- | 974 |
| SCN7A | NLLVLYLFLA-LVSSFS-SCKDVTA-EENN>E<A-KNLQL-AVARIKKGINYVL--------- | 763 |
| SCN8A | NLVVLNLFLALLLSSFS-ADNLAAT-DDDG>E<M-NNLQI-SVIRIKKGVAWTK--------- | 1012 |
| SCN9A | NLVVLNLFLALLLSSFS-SDNLTAI-EEDP>D<A-NNLQI-AVTRIKKGINYVK--------- | 992 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.E771G | c.2312A>G | Cardiomyopathy | HCM | SIFT: Polyphen: | |
| Reports | Cardiomyopathy | HCM | DNA sequence capture and next-generation sequencing for the molecular diagnosis of genetic cardiomyopathies. J Mol Diagn. 2014 16(1):32-44. doi: 10.1016/j.jmoldx.2013.07.008. 24183960 | ||
| p.E771D | c.2313G>T | Putative Benign | rs377519371 | SIFT: tolerated Polyphen: benign | |