No paralogue variants have been mapped to residue 1169 for SCN5A.
SCN5A | LGQDVKDP------------------EDCF>T<EGCVRR-CPCCAVDTTQAP---GKVWWRLR | 1195 |
SCN1A | EPEETLEP------------------EACF>T<EGCVQR-FKCCQINVEEGR---GKQWWNLR | 1208 |
SCN2A | EPEESLEP------------------EACF>T<EDCVRK-FKCCQISIEEGK---GKLWWNLR | 1198 |
SCN3A | EPEEDLKP------------------EACF>T<EGCIKK-FPFCQVSTEEGK---GKIWWNLR | 1196 |
SCN4A | ENPEGEQP------------------EECF>T<EACVQR-WPCLYVDISQGR---GKKWWTLR | 1021 |
SCN7A | --FYGGER------------------SKHL>K<NGCRRG-SSLGQISGASKK---GKIWQNIR | 924 |
SCN8A | QPEEYLDP------------------DACF>T<EGCVQR-FKCCQVNIEEGL---GKSWWILR | 1188 |
SCN9A | EPMNSDEP------------------EACF>T<DGCVWR-FSCCQVNIESGK---GKIWWNIR | 1171 |
SCN10A | LADDLEEP------------------DDCF>T<EGCIRH-CPCCKLDTTKSP---WDVGWQVR | 1142 |
SCN11A | EMVPKKQP------------------ERCL>P<KGFGCC-FPCCSVDKRKPP---WVIWWNLR | 1046 |
CACNA1A | -----NHTVVQVNKNANPDPLPKKEEEKKE>E<EEDDRGEDGPK-PMPPYSSMFILSTTNPLR | 1234 |
CACNA1B | -----GEATVVPSGNVD---LESQAEGKKE>V<EADDVMRSGPR-PIVPYSSMFCLSPTNLLR | 1141 |
CACNA1C | -----SEL----------H----------->-<-----LKEKAV-PMPEASAFFIFSSNNRFR | 890 |
CACNA1D | -----SEL----------N----------->-<-----MKEKIA-PIPEGSAFFILSKTNPIR | 896 |
CACNA1E | ------EASPLKEAEI----REDEEEVEKK>K<QKKEKRETG-K-AMVPHSSMFIFSTTNPIR | 1143 |
CACNA1F | -----QEV----------V----------->-<-----PKEKVV-PIPEGSAFFCLSQTNPLR | 861 |
CACNA1G | -----IRA----------R----------->-<-----LP-ACCLERDSWSAY-IFPPQSRFR | 1266 |
CACNA1H | -----LEP----------Y----------->-<-----KP-QWCRSREAWALY-LFSPQNRFR | 1284 |
CACNA1I | -----IDV----------Y----------->-<-----KP-DWCEVREDWSVY-LFSPENRFR | 1160 |
CACNA1S | -----AEL----------Q----------->-<-----LKEKAV-PIPEASSFFIFSPTNKIR | 789 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.T1169I | c.3506C>T | Putative Benign | SIFT: Polyphen: |