No paralogue variants have been mapped to residue 1181 for SCN5A.
SCN5A | -------------EDCFTEGCVRR-CPCCA>V<DTTQAP---GKVWWRLRKTCYHIVEHSWFE | 1208 |
SCN1A | -------------EACFTEGCVQR-FKCCQ>I<NVEEGR---GKQWWNLRRTCFRIVEHNWFE | 1221 |
SCN2A | -------------EACFTEDCVRK-FKCCQ>I<SIEEGK---GKLWWNLRKTCYKIVEHNWFE | 1211 |
SCN3A | -------------EACFTEGCIKK-FPFCQ>V<STEEGK---GKIWWNLRKTCYSIVEHNWFE | 1209 |
SCN4A | -------------EECFTEACVQR-WPCLY>V<DISQGR---GKKWWTLRRACFKIVEHNWFE | 1034 |
SCN7A | -------------SKHLKNGCRRG-SSLGQ>I<SGASKK---GKIWQNIRKTCCKIVENNWFK | 937 |
SCN8A | -------------DACFTEGCVQR-FKCCQ>V<NIEEGL---GKSWWILRKTCFLIVEHNWFE | 1201 |
SCN9A | -------------EACFTDGCVWR-FSCCQ>V<NIESGK---GKIWWNIRKTCYKIVEHSWFE | 1184 |
SCN10A | -------------DDCFTEGCIRH-CPCCK>L<DTTKSP---WDVGWQVRKTCYRIVEHSWFE | 1155 |
SCN11A | -------------ERCLPKGFGCC-FPCCS>V<DKRKPP---WVIWWNLRKTCYQIVKHSWFE | 1059 |
CACNA1A | KNANPDPLPKKEEEKKEEEEDDRGEDGPK->P<MPPYSSMFILSTTNPLRRLCHYILNLRYFE | 1247 |
CACNA1B | GNVD---LESQAEGKKEVEADDVMRSGPR->P<IVPYSSMFCLSPTNLLRRFCHYIVTMRYFE | 1154 |
CACNA1C | -----H-----------------LKEKAV->P<MPEASAFFIFSSNNRFRLQCHRIVNDTIFT | 903 |
CACNA1D | -----N-----------------MKEKIA->P<IPEGSAFFILSKTNPIRVGCHKLINHHIFT | 909 |
CACNA1E | AEI----REDEEEVEKKKQKKEKRETG-K->A<MVPHSSMFIFSTTNPIRRACHYIVNLRYFE | 1156 |
CACNA1F | -----V-----------------PKEKVV->P<IPEGSAFFCLSQTNPLRKGCHTLIHHHVFT | 874 |
CACNA1G | -----R-----------------LP-ACCL>E<RDSWSAY-IFPPQSRFRLLCHRIITHKMFD | 1279 |
CACNA1H | -----Y-----------------KP-QWCR>S<REAWALY-LFSPQNRFRVSCQKVITHKMFD | 1297 |
CACNA1I | -----Y-----------------KP-DWCE>V<REDWSVY-LFSPENRFRVLCQTIIAHKLFD | 1173 |
CACNA1S | -----Q-----------------LKEKAV->P<IPEASSFFIFSPTNKIRVLCHRIVNATWFT | 802 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V1181A | c.3542T>C | Putative Benign | rs376965389 | SIFT: deleterious Polyphen: benign | |
p.Val1181Leu | c.3541G>T | Unknown | SIFT: Polyphen: |