No paralogue variants have been mapped to residue 989 for SCN5A.
SCN5A | ----RTTWDFCC-----------GLLRQ-R>P<QKPAALA-A----QGQLPSCIATPYSPPP- | 1013 |
SCN1A | ----RKIYEFIQ-----------QSFIR-K>Q<KILDEIK-PLDDLNNKKDSCMSNHT----- | 1066 |
SCN2A | ----RKIREFIQ-----------KAFVR-K>Q<KALDEIK-PLEDLNNKKDSCISNHT----- | 1057 |
SCN3A | ----NKMRECFQ-----------KAFFR-K>P<KVI-EIH-E----GNKIDSCMSNNT----- | 1053 |
SCN4A | ----AFLLGLLH-----------GKILS-P>K<DIMLSLG-EADGAGEAGEAGETAPE----- | 876 |
SCN7A | ----LKILCKTQ-----------NVP---->-<--KDTMD-HVNEVYVKED--ISDHTL---- | 795 |
SCN8A | ----LKVHAFMQ-----------AHFKQ-R>-<-EADEVK-PLDELYEKKANCIANHT----- | 1049 |
SCN9A | ----QTLREFIL-----------KAFSK-K>P<KISREIR-QAEDLNTKKENYISNHT----- | 1031 |
SCN10A | -RTKQALCSFFS-----------RSCPFPQ>P<KAEPELVVKLPLSSSKAENHIAANT----- | 966 |
SCN11A | ----HTLEHFCH-----------KWCRK-Q>-<NLPQQ--------KEVAGGCAAQ------- | 876 |
CACNA1A | QKPAKSVWEQRTSEM--RKQNLLASREA-L>-<------Y-NEMDPDERWKAAYTR-HLRPDM | 816 |
CACNA1B | SAKARSVWEQRASQL--RLQNLRASCEA-L>-<------Y-SEMDPEERLRFATTR-HLRPDM | 810 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | RRHHMSVWEQRTSQL--RKHMQMSSQEA-L>-<------N-REEAPTMNPLNPLNP-LSSL-- | 817 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | DFFSPSLDGDGDRKKCLALVSLGEHPEL-R>-<------K-SLLPPLIIHTAATPM-SLPKST | 1054 |
CACNA1H | -----RELQTTELKMCSLAVTPNGHLEG-R>-<------G-SLSPPLIMCTAATPM-PTPKS- | 1090 |
CACNA1I | -----GLDSSGDPKLCPIPMTPNGHLDP-S>-<------L-PLGGHLGPAGAAGPA-P--RL- | 936 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.P989L | c.2966C>T | Putative Benign | SIFT: tolerated Polyphen: benign |