No paralogue variants have been mapped to residue 995 for SCN5A.
| SCN5A | TWDFCC-----------GLLRQ-RPQKPAA>L<A-A----QGQLPSCIATPYSPPP-PETEKV | 1019 |
| SCN1A | IYEFIQ-----------QSFIR-KQKILDE>I<K-PLDDLNNKKDSCMSNHT--------AEI | 1069 |
| SCN2A | IREFIQ-----------KAFVR-KQKALDE>I<K-PLEDLNNKKDSCISNHT-------TIEI | 1061 |
| SCN3A | MRECFQ-----------KAFFR-KPKVI-E>I<H-E----GNKIDSCMSNNT-------GIEI | 1057 |
| SCN4A | LLGLLH-----------GKILS-PKDIMLS>L<G-EADGAGEAGEAGETAPE-------DEKK | 880 |
| SCN7A | ILCKTQ-----------NVP-------KDT>M<D-HVNEVYVKED--ISDHTL-------SEL | 798 |
| SCN8A | VHAFMQ-----------AHFKQ-R--EADE>V<K-PLDELYEKKANCIANHT-------GADI | 1053 |
| SCN9A | LREFIL-----------KAFSK-KPKISRE>I<R-QAEDLNTKKENYISNHT-------LAEM | 1035 |
| SCN10A | LCSFFS-----------RSCPFPQPKAEPE>L<VVKLPLSSSKAENHIAANT----------- | 966 |
| SCN11A | LEHFCH-----------KWCRK-Q-NLPQQ>-<-------KEVAGGCAAQ---------SKDI | 880 |
| CACNA1A | VWEQRTSEM--RKQNLLASREA-L------>-<Y-NEMDPDERWKAAYTR-HLRPDMKTHLDR | 822 |
| CACNA1B | VWEQRASQL--RLQNLRASCEA-L------>-<Y-SEMDPEERLRFATTR-HLRPDMKTHLDR | 816 |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | VWEQRTSQL--RKHMQMSSQEA-L------>-<N-REEAPTMNPLNPLNP-LSSL-------N | 818 |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | LDGDGDRKKCLALVSLGEHPEL-R------>-<K-SLLPPLIIHTAATPM-SLPKSTSTGLGE | 1060 |
| CACNA1H | ELQTTELKMCSLAVTPNGHLEG-R------>-<G-SLSPPLIMCTAATPM-PTPKS-SPFLDA | 1096 |
| CACNA1I | LDSSGDPKLCPIPMTPNGHLDP-S------>-<L-PLGGHLGPAGAAGPA-P--RL-SLQPDP | 942 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.L995F | c.2983C>T | Putative Benign | SIFT: Polyphen: |