| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| SCN1A | R1208K | Dravet syndrome B ? | High | 9 | 21248271 |
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 | TEGCVRR-CPCCAVDTTQAP---GKVWWRL>R<KTCYHIVEHSWFETFIIFMILLSSGALAFE | 1225 |
| SCN1A | TEGCVQR-FKCCQINVEEGR---GKQWWNL>R<RTCFRIVEHNWFETFIVFMILLSSGALAFE | 1238 |
| SCN2A | TEDCVRK-FKCCQISIEEGK---GKLWWNL>R<KTCYKIVEHNWFETFIVFMILLSSGALAFE | 1228 |
| SCN3A | TEGCIKK-FPFCQVSTEEGK---GKIWWNL>R<KTCYSIVEHNWFETFIVFMILLSSGALAFE | 1226 |
| SCN4A | TEACVQR-WPCLYVDISQGR---GKKWWTL>R<RACFKIVEHNWFETFIVFMILLSSGALAFE | 1051 |
| SCN7A | KNGCRRG-SSLGQISGASKK---GKIWQNI>R<KTCCKIVENNWFKCFIGLVTLLSTGTLAFE | 954 |
| SCN8A | TEGCVQR-FKCCQVNIEEGL---GKSWWIL>R<KTCFLIVEHNWFETFIIFMILLSSGALAFE | 1218 |
| SCN9A | TDGCVWR-FSCCQVNIESGK---GKIWWNI>R<KTCYKIVEHSWFESFIVLMILLSSGALAFE | 1201 |
| SCN10A | TEGCIRH-CPCCKLDTTKSP---WDVGWQV>R<KTCYRIVEHSWFESFIIFMILLSSGSLAFE | 1172 |
| SCN11A | PKGFGCC-FPCCSVDKRKPP---WVIWWNL>R<KTCYQIVKHSWFESFIIFVILLSSGALIFE | 1076 |
| CACNA1A | EEEDDRGEDGPK-PMPPYSSMFILSTTNPL>R<RLCHYILNLRYFEMCILMVIAMSSIALAAE | 1264 |
| CACNA1B | VEADDVMRSGPR-PIVPYSSMFCLSPTNLL>R<RFCHYIVTMRYFEVVILVVIALSSIALAAE | 1171 |
| CACNA1C | ------LKEKAV-PMPEASAFFIFSSNNRF>R<LQCHRIVNDTIFTNLILFFILLSSISLAAE | 920 |
| CACNA1D | ------MKEKIA-PIPEGSAFFILSKTNPI>R<VGCHKLINHHIFTNLILVFIMLSSAALAAE | 926 |
| CACNA1E | KQKKEKRETG-K-AMVPHSSMFIFSTTNPI>R<RACHYIVNLRYFEMCILLVIAASSIALAAE | 1173 |
| CACNA1F | ------PKEKVV-PIPEGSAFFCLSQTNPL>R<KGCHTLIHHHVFTNLILVFIILSSVSLAAE | 891 |
| CACNA1G | ------LP-ACCLERDSWSAY-IFPPQSRF>R<LLCHRIITHKMFDHVVLVIIFLNCITIAME | 1296 |
| CACNA1H | ------KP-QWCRSREAWALY-LFSPQNRF>R<VSCQKVITHKMFDHVVLVFIFLNCVTIALE | 1314 |
| CACNA1I | ------KP-DWCEVREDWSVY-LFSPENRF>R<VLCQTIIAHKLFDYVVLAFIFLNCITIALE | 1190 |
| CACNA1S | ------LKEKAV-PIPEASSFFIFSPTNKI>R<VLCHRIVNATWFTNFILLFILLSSAALAAE | 819 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.R1195H | c.3584G>A | Other Cardiac Phenotype | rs199473596 | SIFT: deleterious Polyphen: probably damaging | |
| Reports | Other Cardiac Phenotype | Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A. Heart Rhythm. 2009 6(8):1170-5. 19632629 | |||
| p.Arg1195Cys | c.3583C>T | Unknown | SIFT: Polyphen: | ||