Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
---|---|---|---|---|---|
SCN9A | I120M | Dravet syndrome | Medium | 9 | 23895530 |
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 | VLNKGKTIFRFSATNALYVLSPFHPIRRAA>V<KILVHSLFNMLIMCTILTNCVFMAQH---- | 151 |
SCN1A | VLNKGKAIFRFSATSALYILTPFNPLRKIA>I<KILVHSLFSMLIMCTILTNCVFMTMS---- | 148 |
SCN2A | VLNKGKAISRFSATPALYILTPFNPIRKLA>I<KILVHSLFNMLIMCTILTNCVFMTMS---- | 149 |
SCN3A | VMNKGKAIFRFSATSALYILTPLNPVRKIA>I<KILVHSLFSMLIMCTILTNCVFMTLS---- | 148 |
SCN4A | VLNKGKAIFRFSATPALYLLSPFSVVRRGA>I<KVLIHALFSMFIMITILTNCVFMTMS---- | 151 |
SCN7A | VLNKNRTIFRFNAASILCTLSPFNCIRRTT>I<KVLVHPFFQLFILISVLIDCVFMSLT---- | 138 |
SCN8A | VLNRGKTLFRFSATPALYILSPFNLIRRIA>I<KILIHSVFSMIIMCTILTNCVFMTFS---- | 152 |
SCN9A | VLNKGKTIFRFNATPALYMLSPFSPLRRIS>I<KILVHSLFSMLIMCTILTNCIFMTMN---- | 146 |
SCN10A | VLNKGRTISRFSATRALWLFSPFNLIRRTA>I<KVSVHSWFSLFITVTILVNCVCMTRT---- | 150 |
SCN11A | VLNRKRTIYRFSAKHALFIFGPFNSIRSLA>I<RVSVHSLFSMFIIGTVIINCVFMATGPA-K | 152 |
CACNA1A | YNPIPVRQNCLTVNRSLFLFSEDNVVRKYA>K<KITEWPPFEYMILATIIANCIVLALEQHLP | 122 |
CACNA1B | YNPIPVKQNCFTVNRSLFVFSEDNVVRKYA>K<RITEWPPFEYMILATIIANCIVLALEQHLP | 119 |
CACNA1C | KPKKQGSTTATRPPRALLCLTLKNPIRRAC>I<SIVEWKPFEIIILLTIFANCVALAIYIPFP | 148 |
CACNA1D | KSKKQGNSSNSRPARALFCLSLNNPIRRAC>I<SIVEWKPFDIFILLAIFANCVALAIYIPFP | 150 |
CACNA1E | YNPIPVRQNCFTVNRSLFIFGEDNIVRKYA>K<KLIDWPPFEYMILATIIANCIVLALEQHLP | 113 |
CACNA1F | KHKTVAVASAQRSPRALFCLTLANPLRRSC>I<SIVEWKPFDILILLTIFANCVALGVYIPFP | 116 |
CACNA1G | DSEAEGLPYPALAPVVFFYLSQDSRPRSWC>L<RTVCNPWFERISMLVILLNCVTLGMFRPCE | 105 |
CACNA1H | ADEEQRVPYPALAATVFFCLGQTTRPRSWC>L<RLVCNPWFEHVSMLVIMLNCVTLGMFRPCE | 124 |
CACNA1I | G-ADPHVPHPDLAPIAFFCLRQTTSPRNWC>I<KMVCNPWFECVSMLVILLNCVTLGMYQPCD | 103 |
CACNA1S | QPKKPVPEILPRPPRALFCLTLENPLRKAC>I<SIVEWKPFETIILLTIFANCVALAVYLPMP | 75 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V125G | c.374T>G | Putative Benign | rs76552185 | SIFT: deleterious Polyphen: possibly damaging | |
p.V125L | c.373G>C | Inherited Arrhythmia | LQTS | rs199473059 | SIFT: deleterious Polyphen: benign |
Reports | Inherited Arrhythmia | LQTS | Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476 | ||
Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 | |||
Inherited Arrhythmia | LQTS | Characterization of N-terminally mutated cardiac Na(+) channels associated with long QT syndrome 3 and Brugada syndrome. Front Physiol. 2013 4:153. doi: 10.3389/fphys.2013.00153. eCollection 23805106 | |||
Unknown | Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy. Heart. 2015 101(4):294-301. doi: 10.1136/heartjnl-2014-306387. 25351510 |