No paralogue variants have been mapped to residue 20 for SCN5A.
SCN5A | F-L-------------LPRGTSSFRRFTRE>S<LAAIEKRMAEK-QARGSTTLQESRE-GLPE | 48 |
SCN1A | V-L-------------VPPGPDSFNFFTRE>S<LAAIERRIAEE-KAKNPKPD----K-KDDD | 45 |
SCN2A | V-L-------------VPPGPDSFRFFTRE>S<LAAIEQRIAEE-KAKRPKQE----RKDEDD | 46 |
SCN3A | L-L-------------VPPGPESFRLFTRE>S<LAAIEKRAAEE-KAKKPKKE----Q-DNDD | 45 |
SCN4A | T-L-------------VPLGPECLRPFTRE>S<LAAIEQRAVEE-EARLQRNK----Q-MEIE | 48 |
SCN7A | M-L-------------ASPEPKGLVPFTKE>S<FELIKQHIAKT--------H----N-EDHE | 34 |
SCN8A | L-L-------------APPGPDSFKPFTPE>S<LANIERRIAES-KLKKPPKADGSHR-EDDE | 49 |
SCN9A | M-L-------------PPPGPQSFVHFTKQ>S<LALIEQRIAER-KSKEPKEE----K-KDDD | 43 |
SCN10A | P-I-------------GSLETNNFRRFTPE>S<LVEIEKQIAAKQGT-KKARE-KHRE-QKDQ | 47 |
SCN11A | P-V-------------IFPDERNFRPFTSD>S<LAAIEKRIAIQ-KEKKKSK-----D-QTGE | 46 |
CACNA1A | -GD----EM-PARYGG------------GG>S<GAAAGV-------------VVGSG-GGRGA | 33 |
CACNA1B | -GD----EL-GGRYGG------------PG>G<GERA-----------------RGG-GAGGA | 29 |
CACNA1C | -MYIPEENHQGSNYGS------------PR>-<PAHANMN--------A-NAAAGLA----PE | 41 |
CACNA1D | -MMMKKMQHQRQQQAD--------H--ANE>-<ANYARGT--------R-LPLSGEG----PT | 40 |
CACNA1E | -GE----AV-VARPGS-------------->-<GDGD----------------SD-Q-SRNRQ | 26 |
CACNA1F | -E----GG----KDTT------------PE>-<PSPAN--------------GAGPG----PE | 25 |
CACNA1G | -GA-------------GAEESGQP-R-S-->-<------F--------M--RLND------LS | 26 |
CACNA1H | ADE--V-RV-P--LGAPPPGPAALVGASPE>S<PGAPGRE--------A--ERGS------EL | 46 |
CACNA1I | -SA-------------SPPSSSAAAPAA-->-<---------------E--PGVTTE----QP | 26 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S20F | c.59C>T | Putative Benign | rs369275887 | SIFT: deleterious Polyphen: probably damaging |