No paralogue variants have been mapped to residue 16 for SCN5A.
SCN5A | MAN-F-L-------------LPRGTSSFRR>F<TRESLAAIEKRMAEK-QARGSTTLQESRE- | 44 |
SCN1A | EQT-V-L-------------VPPGPDSFNF>F<TRESLAAIERRIAEE-KAKNPKPD----K- | 41 |
SCN2A | AQS-V-L-------------VPPGPDSFRF>F<TRESLAAIEQRIAEE-KAKRPKQE----RK | 42 |
SCN3A | AQA-L-L-------------VPPGPESFRL>F<TRESLAAIEKRAAEE-KAKKPKKE----Q- | 41 |
SCN4A | SLC-T-L-------------VPLGPECLRP>F<TRESLAAIEQRAVEE-EARLQRNK----Q- | 44 |
SCN7A | ----M-L-------------ASPEPKGLVP>F<TKESFELIKQHIAKT--------H----N- | 30 |
SCN8A | AAR-L-L-------------APPGPDSFKP>F<TPESLANIERRIAES-KLKKPPKADGSHR- | 45 |
SCN9A | -MA-M-L-------------PPPGPQSFVH>F<TKQSLALIEQRIAER-KSKEPKEE----K- | 39 |
SCN10A | MEF-P-I-------------GSLETNNFRR>F<TPESLVEIEKQIAAKQGT-KKARE-KHRE- | 43 |
SCN11A | RCY-P-V-------------IFPDERNFRP>F<TSDSLAAIEKRIAIQ-KEKKKSK-----D- | 42 |
CACNA1A | -----GD----EM-PARYGG---------->-<-GGSGAAAGV-------------VVGSG-G | 29 |
CACNA1B | -----GD----EL-GGRYGG---------->-<-PGGGERA-----------------RGG-G | 25 |
CACNA1C | NTR--MYIPEENHQGSNYGS---------->-<-PR-PAHANMN--------A-NAAAGLA-- | 39 |
CACNA1D | -----MMMKKMQHQRQQQAD--------H->-<ANE-ANYARGT--------R-LPLSGEG-- | 38 |
CACNA1E | -----GE----AV-VARPGS---------->-<----GDGD----------------SD-Q-S | 22 |
CACNA1F | -----E----GG----KDTT---------->-<-PE-PSPAN--------------GAGPG-- | 23 |
CACNA1G | -ED--GA-------------GAEESGQP-R>-<S---------F--------M--RLND---- | 24 |
CACNA1H | -ARAADE--V-RV-P--LGAPPPGPAALVG>A<SPESPGAPGRE--------A--ERGS---- | 44 |
CACNA1I | -----SA-------------SPPSSSAAAP>A<A------------------E--PGVTTE-- | 24 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.F16L | c.48C>G | Putative Benign | SIFT: Polyphen: |