No paralogue variants have been mapped to residue 991 for SCN5A.
| SCN5A | --RTTWDFCC-----------GLLRQ-RPQ>K<PAALA-A----QGQLPSCIATPYSPPP-PE | 1015 |
| SCN1A | --RKIYEFIQ-----------QSFIR-KQK>I<LDEIK-PLDDLNNKKDSCMSNHT------- | 1066 |
| SCN2A | --RKIREFIQ-----------KAFVR-KQK>A<LDEIK-PLEDLNNKKDSCISNHT------- | 1057 |
| SCN3A | --NKMRECFQ-----------KAFFR-KPK>V<I-EIH-E----GNKIDSCMSNNT------- | 1053 |
| SCN4A | --AFLLGLLH-----------GKILS-PKD>I<MLSLG-EADGAGEAGEAGETAPE------- | 876 |
| SCN7A | --LKILCKTQ-----------NVP------>-<KDTMD-HVNEVYVKED--ISDHTL------ | 795 |
| SCN8A | --LKVHAFMQ-----------AHFKQ-R-->E<ADEVK-PLDELYEKKANCIANHT------- | 1049 |
| SCN9A | --QTLREFIL-----------KAFSK-KPK>I<SREIR-QAEDLNTKKENYISNHT------- | 1031 |
| SCN10A | TKQALCSFFS-----------RSCPFPQPK>A<EPELVVKLPLSSSKAENHIAANT------- | 966 |
| SCN11A | --HTLEHFCH-----------KWCRK-Q-N>L<PQQ--------KEVAGGCAAQ--------- | 876 |
| CACNA1A | PAKSVWEQRTSEM--RKQNLLASREA-L-->-<----Y-NEMDPDERWKAAYTR-HLRPDMKT | 818 |
| CACNA1B | KARSVWEQRASQL--RLQNLRASCEA-L-->-<----Y-SEMDPEERLRFATTR-HLRPDMKT | 812 |
| CACNA1C | ------------------------------>-<------------------------------ | |
| CACNA1D | ------------------------------>-<------------------------------ | |
| CACNA1E | HHMSVWEQRTSQL--RKHMQMSSQEA-L-->-<----N-REEAPTMNPLNPLNP-LSSL---- | 817 |
| CACNA1F | ------------------------------>-<------------------------------ | |
| CACNA1G | FSPSLDGDGDRKKCLALVSLGEHPEL-R-->-<----K-SLLPPLIIHTAATPM-SLPKSTST | 1056 |
| CACNA1H | ---RELQTTELKMCSLAVTPNGHLEG-R-->-<----G-SLSPPLIMCTAATPM-PTPKS-SP | 1092 |
| CACNA1I | ---GLDSSGDPKLCPIPMTPNGHLDP-S-->-<----L-PLGGHLGPAGAAGPA-P--RL-SL | 938 |
| CACNA1S | ------------------------------>-<------------------------------ | |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.K991E | c.2971A>G | Putative Benign | SIFT: Polyphen: |