No paralogue variants have been mapped to residue 7 for SCN5A.
SCN5A | ----MAN-F-L-------------L>P<RGTSSFRRFTRESLAAIEKRMAEK-QARGS | 36 |
SCN1A | ---MEQT-V-L-------------V>P<PGPDSFNFFTRESLAAIERRIAEE-KAKNP | 37 |
SCN2A | ---MAQS-V-L-------------V>P<PGPDSFRFFTRESLAAIEQRIAEE-KAKRP | 37 |
SCN3A | ---MAQA-L-L-------------V>P<PGPESFRLFTRESLAAIEKRAAEE-KAKKP | 37 |
SCN4A | MARPSLC-T-L-------------V>P<LGPECLRPFTRESLAAIEQRAVEE-EARLQ | 40 |
SCN7A | --------M-L-------------A>S<PEPKGLVPFTKESFELIKQHIAKT------ | 28 |
SCN8A | ---MAAR-L-L-------------A>P<PGPDSFKPFTPESLANIERRIAES-KLKKP | 37 |
SCN9A | -----MA-M-L-------------P>P<PGPQSFVHFTKQSLALIEQRIAER-KSKEP | 35 |
SCN10A | ----MEF-P-I-------------G>S<LETNNFRRFTPESLVEIEKQIAAKQGT-KK | 36 |
SCN11A | -MDDRCY-P-V-------------I>F<PDERNFRPFTSDSLAAIEKRIAIQ-KEKKK | 39 |
CACNA1A | MARF-----GD----EM-PARYGG->-<----------GGSGAAAGV----------- | 23 |
CACNA1B | MVRF-----GD----EL-GGRYGG->-<----------PGGGERA------------- | 21 |
CACNA1C | MVNENTR--MYIPEENHQGSNYGS->-<----------PR-PAHANMN--------A- | 32 |
CACNA1D | MMMM-----MMMKKMQHQRQQQAD->-<------H--ANE-ANYARGT--------R- | 31 |
CACNA1E | MARF-----GE----AV-VARPGS->-<-------------GDGD------------- | 18 |
CACNA1F | MSES-----E----GG----KDTT->-<----------PE-PSPAN------------ | 18 |
CACNA1G | MDEE-ED--GA-------------G>A<EESGQP-R-S---------F--------M- | 20 |
CACNA1H | MTEG-ARAADE--V-RV-P--LGAP>P<PGPAALVGASPESPGAPGRE--------A- | 40 |
CACNA1I | MAE------SA-------------S>P<PSSSAAAPAA------------------E- | 18 |
CACNA1S | MEP---------------------->-<------------------------------ | 3 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P7R | c.20C>G | Putative Benign | SIFT: Polyphen: |