No paralogue variants have been mapped to residue 1190 for SCN5A.
SCN5A | -EDCFTEGCVRR-CPCCAVDTTQAP---GK>V<WWRLRKTCYHIVEHSWFETFIIFMILLSSG | 1220 |
SCN1A | -EACFTEGCVQR-FKCCQINVEEGR---GK>Q<WWNLRRTCFRIVEHNWFETFIVFMILLSSG | 1233 |
SCN2A | -EACFTEDCVRK-FKCCQISIEEGK---GK>L<WWNLRKTCYKIVEHNWFETFIVFMILLSSG | 1223 |
SCN3A | -EACFTEGCIKK-FPFCQVSTEEGK---GK>I<WWNLRKTCYSIVEHNWFETFIVFMILLSSG | 1221 |
SCN4A | -EECFTEACVQR-WPCLYVDISQGR---GK>K<WWTLRRACFKIVEHNWFETFIVFMILLSSG | 1046 |
SCN7A | -SKHLKNGCRRG-SSLGQISGASKK---GK>I<WQNIRKTCCKIVENNWFKCFIGLVTLLSTG | 949 |
SCN8A | -DACFTEGCVQR-FKCCQVNIEEGL---GK>S<WWILRKTCFLIVEHNWFETFIIFMILLSSG | 1213 |
SCN9A | -EACFTDGCVWR-FSCCQVNIESGK---GK>I<WWNIRKTCYKIVEHSWFESFIVLMILLSSG | 1196 |
SCN10A | -DDCFTEGCIRH-CPCCKLDTTKSP---WD>V<GWQVRKTCYRIVEHSWFESFIIFMILLSSG | 1167 |
SCN11A | -ERCLPKGFGCC-FPCCSVDKRKPP---WV>I<WWNLRKTCYQIVKHSWFESFIIFVILLSSG | 1071 |
CACNA1A | EEKKEEEEDDRGEDGPK-PMPPYSSMFILS>T<TNPLRRLCHYILNLRYFEMCILMVIAMSSI | 1259 |
CACNA1B | EGKKEVEADDVMRSGPR-PIVPYSSMFCLS>P<TNLLRRFCHYIVTMRYFEVVILVVIALSSI | 1166 |
CACNA1C | -----------LKEKAV-PMPEASAFFIFS>S<NNRFRLQCHRIVNDTIFTNLILFFILLSSI | 915 |
CACNA1D | -----------MKEKIA-PIPEGSAFFILS>K<TNPIRVGCHKLINHHIFTNLILVFIMLSSA | 921 |
CACNA1E | EVEKKKQKKEKRETG-K-AMVPHSSMFIFS>T<TNPIRRACHYIVNLRYFEMCILLVIAASSI | 1168 |
CACNA1F | -----------PKEKVV-PIPEGSAFFCLS>Q<TNPLRKGCHTLIHHHVFTNLILVFIILSSV | 886 |
CACNA1G | -----------LP-ACCLERDSWSAY-IFP>P<QSRFRLLCHRIITHKMFDHVVLVIIFLNCI | 1291 |
CACNA1H | -----------KP-QWCRSREAWALY-LFS>P<QNRFRVSCQKVITHKMFDHVVLVFIFLNCV | 1309 |
CACNA1I | -----------KP-DWCEVREDWSVY-LFS>P<ENRFRVLCQTIIAHKLFDYVVLAFIFLNCI | 1185 |
CACNA1S | -----------LKEKAV-PIPEASSFFIFS>P<TNKIRVLCHRIVNATWFTNFILLFILLSSA | 814 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1190F | c.3568G>T | Putative Benign | SIFT: tolerated Polyphen: probably damaging |