No paralogue variants have been mapped to residue 49 for SCN5A.
SCN5A | LAAIEKRMAEK-QARGSTTLQESRE-GLPE>E<--EAPRPQLDLQASKKLPDLYGNPPQELIG | 77 |
SCN1A | LAAIERRIAEE-KAKNPKPD----K-KDDD>E<--NGPKPNSDLEAGKNLPFIYGDIPPEMVS | 74 |
SCN2A | LAAIEQRIAEE-KAKRPKQE----RKDEDD>E<--NGPKPNSDLEAGKSLPFIYGDIPPEMVS | 75 |
SCN3A | LAAIEKRAAEE-KAKKPKKE----Q-DNDD>E<--NKPKPNSDLEAGKNLPFIYGDIPPEMVS | 74 |
SCN4A | LAAIEQRAVEE-EARLQRNK----Q-MEIE>E<--PERKPRSDLEAGKNLPMIYGDPPPEVIG | 77 |
SCN7A | FELIKQHIAKT--------H----N-EDHE>E<--EDLKPTPDLEVGKKLPFIYGNLSQGMVS | 63 |
SCN8A | LANIERRIAES-KLKKPPKADGSHR-EDDE>D<--SKPKPNSDLEAGKSLPFIYGDIPQGLVA | 78 |
SCN9A | LALIEQRIAER-KSKEPKEE----K-KDDD>E<--EAPKPSSDLEAGKQLPFIYGDIPPGMVS | 72 |
SCN10A | LVEIEKQIAAKQGT-KKARE-KHRE-QKDQ>E<--EKPRPQLDLKACNQLPKFYGELPAELIG | 76 |
SCN11A | LAAIEKRIAIQ-KEKKKSK-----D-QTGE>V<--PQPRPQLDLKASRKLPKLYGDIPRELIG | 75 |
CACNA1A | GAAAGV-------------VVGSG-GGRGA>G<--GSRQGGQ--------PGA---------- | 44 |
CACNA1B | GERA-----------------RGG-GAGGA>G<--GPGPGGLQ-------PGQ---------- | 41 |
CACNA1C | PAHANMN--------A-NAAAGLA----PE>H<--IPTPGAALSWQAAIDAARQAKLMGSAGN | 70 |
CACNA1D | ANYARGT--------R-LPLSGEG----PT>S<QPNSSKQTVLSWQAAIDAARQAKAAQTMST | 71 |
CACNA1E | GDGD----------------SD-Q-SRNRQ>G<--TPVPA----------SGQ---------- | 35 |
CACNA1F | PSPAN--------------GAGPG----PE>W<GLCPGP----P-------AV--------EG | 37 |
CACNA1G | ------F--------M--RLND------LS>G<--AGGRP-----------G----------- | 33 |
CACNA1H | PGAPGRE--------A--ERGS------EL>G<--VSPSE-----------S----------- | 53 |
CACNA1I | ---------------E--PGVTTE----QP>G<--P--RS--P-------PS----------- | 33 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E49K | c.145G>A | Putative Benign | SIFT: Polyphen: |