No paralogue variants have been mapped to residue 8 for SCN5A.
SCN5A | ----MAN-F-L-------------LP>R<GTSSFRRFTRESLAAIEKRMAEK-QARGST | 37 |
SCN1A | ---MEQT-V-L-------------VP>P<GPDSFNFFTRESLAAIERRIAEE-KAKNPK | 38 |
SCN2A | ---MAQS-V-L-------------VP>P<GPDSFRFFTRESLAAIEQRIAEE-KAKRPK | 38 |
SCN3A | ---MAQA-L-L-------------VP>P<GPESFRLFTRESLAAIEKRAAEE-KAKKPK | 38 |
SCN4A | MARPSLC-T-L-------------VP>L<GPECLRPFTRESLAAIEQRAVEE-EARLQR | 41 |
SCN7A | --------M-L-------------AS>P<EPKGLVPFTKESFELIKQHIAKT------- | 28 |
SCN8A | ---MAAR-L-L-------------AP>P<GPDSFKPFTPESLANIERRIAES-KLKKPP | 38 |
SCN9A | -----MA-M-L-------------PP>P<GPQSFVHFTKQSLALIEQRIAER-KSKEPK | 36 |
SCN10A | ----MEF-P-I-------------GS>L<ETNNFRRFTPESLVEIEKQIAAKQGT-KKA | 37 |
SCN11A | -MDDRCY-P-V-------------IF>P<DERNFRPFTSDSLAAIEKRIAIQ-KEKKKS | 40 |
CACNA1A | MARF-----GD----EM-PARYGG-->-<---------GGSGAAAGV------------ | 23 |
CACNA1B | MVRF-----GD----EL-GGRYGG-->-<---------PGGGERA-------------- | 21 |
CACNA1C | MVNENTR--MYIPEENHQGSNYGS-->-<---------PR-PAHANMN--------A-N | 33 |
CACNA1D | MMMM-----MMMKKMQHQRQQQAD-->-<-----H--ANE-ANYARGT--------R-L | 32 |
CACNA1E | MARF-----GE----AV-VARPGS-->-<------------GDGD-------------- | 18 |
CACNA1F | MSES-----E----GG----KDTT-->-<---------PE-PSPAN------------- | 18 |
CACNA1G | MDEE-ED--GA-------------GA>E<ESGQP-R-S---------F--------M-- | 20 |
CACNA1H | MTEG-ARAADE--V-RV-P--LGAPP>P<GPAALVGASPESPGAPGRE--------A-- | 40 |
CACNA1I | MAE------SA-------------SP>P<SSSAAAPAA------------------E-- | 18 |
CACNA1S | MEP----------------------->-<------------------------------ | 3 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R8P | c.23G>C | Putative Benign | SIFT: tolerated Polyphen: benign | ||
p.R8Q | c.23G>A | Putative Benign | SIFT: Polyphen: |