Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN2A | M136I | Epileptic encephalopathy, early onset | High | 9 | 23708187 |
SCN10A | T137M | Brugada syndrome | Medium | 9 | 24998131 |
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 SCN5A.
SCN5A | TNALYVLSPFHPIRRAAVKILVHSLFNMLI>M<CTILTNCVFMAQH------D-PPPWT--KY | 159 |
SCN1A | TSALYILTPFNPLRKIAIKILVHSLFSMLI>M<CTILTNCVFMTMS------N-PPDWT--KN | 156 |
SCN2A | TPALYILTPFNPIRKLAIKILVHSLFNMLI>M<CTILTNCVFMTMS------N-PPDWT--KN | 157 |
SCN3A | TSALYILTPLNPVRKIAIKILVHSLFSMLI>M<CTILTNCVFMTLS------N-PPDWT--KN | 156 |
SCN4A | TPALYLLSPFSVVRRGAIKVLIHALFSMFI>M<ITILTNCVFMTMS------D-PPPWS--KN | 159 |
SCN7A | ASILCTLSPFNCIRRTTIKVLVHPFFQLFI>L<ISVLIDCVFMSLT------N-LPKWR--PV | 146 |
SCN8A | TPALYILSPFNLIRRIAIKILIHSVFSMII>M<CTILTNCVFMTFS------N-PPDWS--KN | 160 |
SCN9A | TPALYMLSPFSPLRRISIKILVHSLFSMLI>M<CTILTNCIFMTMN------N-PPDWT--KN | 154 |
SCN10A | TRALWLFSPFNLIRRTAIKVSVHSWFSLFI>T<VTILVNCVCMTRT------D-LPE-----K | 155 |
SCN11A | KHALFIFGPFNSIRSLAIRVSVHSLFSMFI>I<GTVIINCVFMATGPA-K--NSNSNNT--DI | 161 |
CACNA1A | NRSLFLFSEDNVVRKYAKKITEWPPFEYMI>L<ATIIANCIVLALEQHLPDDDKTPMSERLDD | 135 |
CACNA1B | NRSLFVFSEDNVVRKYAKRITEWPPFEYMI>L<ATIIANCIVLALEQHLPDGDKTPMSERLDD | 132 |
CACNA1C | PRALLCLTLKNPIRRACISIVEWKPFEIII>L<LTIFANCVALAIYIPFPEDDSNATNSNLER | 161 |
CACNA1D | ARALFCLSLNNPIRRACISIVEWKPFDIFI>L<LAIFANCVALAIYIPFPEDDSNSTNHNLEK | 163 |
CACNA1E | NRSLFIFGEDNIVRKYAKKLIDWPPFEYMI>L<ATIIANCIVLALEQHLPEDDKTPMSRRLEK | 126 |
CACNA1F | PRALFCLTLANPLRRSCISIVEWKPFDILI>L<LTIFANCVALGVYIPFPEDDSNTANHNLEQ | 129 |
CACNA1G | PVVFFYLSQDSRPRSWCLRTVCNPWFERIS>M<LVILLNCVTLGMFRPCEDIACDSQRCRILQ | 118 |
CACNA1H | ATVFFCLGQTTRPRSWCLRLVCNPWFEHVS>M<LVIMLNCVTLGMFRPCEDVECGSERCNILE | 137 |
CACNA1I | PIAFFCLRQTTSPRNWCIKMVCNPWFECVS>M<LVILLNCVTLGMYQPCDDMDCLSDRCKILQ | 116 |
CACNA1S | PRALFCLTLENPLRKACISIVEWKPFETII>L<LTIFANCVALAVYLPMPEDDNNSLNLGLEK | 88 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M138I | c.414G>A | Inherited Arrhythmia | AF | rs199473060 | SIFT: tolerated Polyphen: benign |
Reports | Inherited Arrhythmia | AF | Cardiac sodium channel (SCN5A) variants associated with atrial fibrillation. Circulation. 2008 117(15):1927-35. 18378609 | ||
Unknown | Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381 | ||||
p.Met138Thr | c.413T>C | Unknown | SIFT: Polyphen: |