No paralogue variants have been mapped to residue 987 for SCN5A.
SCN5A | -------RTTWDFCC-----------GLLR>Q<-RPQKPAALA-A----QGQLPSCIATPYSP | 1011 |
SCN1A | -------RKIYEFIQ-----------QSFI>R<-KQKILDEIK-PLDDLNNKKDSCMSNHT-- | 1066 |
SCN2A | -------RKIREFIQ-----------KAFV>R<-KQKALDEIK-PLEDLNNKKDSCISNHT-- | 1057 |
SCN3A | -------NKMRECFQ-----------KAFF>R<-KPKVI-EIH-E----GNKIDSCMSNNT-- | 1053 |
SCN4A | -------AFLLGLLH-----------GKIL>S<-PKDIMLSLG-EADGAGEAGEAGETAPE-- | 876 |
SCN7A | -------LKILCKTQ-----------NVP->-<-----KDTMD-HVNEVYVKED--ISDHTL- | 795 |
SCN8A | -------LKVHAFMQ-----------AHFK>Q<-R--EADEVK-PLDELYEKKANCIANHT-- | 1049 |
SCN9A | -------QTLREFIL-----------KAFS>K<-KPKISREIR-QAEDLNTKKENYISNHT-- | 1031 |
SCN10A | ----RTKQALCSFFS-----------RSCP>F<PQPKAEPELVVKLPLSSSKAENHIAANT-- | 966 |
SCN11A | -------HTLEHFCH-----------KWCR>K<-Q-NLPQQ--------KEVAGGCAAQ---- | 876 |
CACNA1A | QKNQKPAKSVWEQRTSEM--RKQNLLASRE>A<-L-------Y-NEMDPDERWKAAYTR-HLR | 813 |
CACNA1B | QQNSAKARSVWEQRASQL--RLQNLRASCE>A<-L-------Y-SEMDPEERLRFATTR-HLR | 807 |
CACNA1C | --P--------------------------->-<------------------------------ | 784 |
CACNA1D | --L--------------------------->-<------------------------------ | 803 |
CACNA1E | ERRRRHHMSVWEQRTSQL--RKHMQMSSQE>A<-L-------N-REEAPTMNPLNPLNP-LSS | 816 |
CACNA1F | --L--------------------------->-<------------------------------ | 789 |
CACNA1G | --PDFFSPSLDGDGDRKKCLALVSLGEHPE>L<-R-------K-SLLPPLIIHTAATPM-SLP | 1051 |
CACNA1H | --------RELQTTELKMCSLAVTPNGHLE>G<-R-------G-SLSPPLIMCTAATPM-PTP | 1088 |
CACNA1I | --------GLDSSGDPKLCPIPMTPNGHLD>P<-S-------L-PLGGHLGPAGAAGPA-P-- | 934 |
CACNA1S | --E--------------------------->-<------------------------------ | 695 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q987H | c.2961G>C | Putative Benign | SIFT: tolerated Polyphen: benign |