No paralogue variants have been mapped to residue 993 for SCN5A.
SCN5A | RTTWDFCC-----------GLLRQ-RPQKP>A<ALA-A----QGQLPSCIATPYSPPP-PETE | 1017 |
SCN1A | RKIYEFIQ-----------QSFIR-KQKIL>D<EIK-PLDDLNNKKDSCMSNHT--------A | 1067 |
SCN2A | RKIREFIQ-----------KAFVR-KQKAL>D<EIK-PLEDLNNKKDSCISNHT-------TI | 1059 |
SCN3A | NKMRECFQ-----------KAFFR-KPKVI>-<EIH-E----GNKIDSCMSNNT-------GI | 1055 |
SCN4A | AFLLGLLH-----------GKILS-PKDIM>L<SLG-EADGAGEAGEAGETAPE-------DE | 878 |
SCN7A | LKILCKTQ-----------NVP-------K>D<TMD-HVNEVYVKED--ISDHTL-------S | 796 |
SCN8A | LKVHAFMQ-----------AHFKQ-R--EA>D<EVK-PLDELYEKKANCIANHT-------GA | 1051 |
SCN9A | QTLREFIL-----------KAFSK-KPKIS>R<EIR-QAEDLNTKKENYISNHT-------LA | 1033 |
SCN10A | QALCSFFS-----------RSCPFPQPKAE>P<ELVVKLPLSSSKAENHIAANT--------- | 966 |
SCN11A | HTLEHFCH-----------KWCRK-Q-NLP>Q<Q--------KEVAGGCAAQ---------SK | 878 |
CACNA1A | KSVWEQRTSEM--RKQNLLASREA-L---->-<--Y-NEMDPDERWKAAYTR-HLRPDMKTHL | 820 |
CACNA1B | RSVWEQRASQL--RLQNLRASCEA-L---->-<--Y-SEMDPEERLRFATTR-HLRPDMKTHL | 814 |
CACNA1C | ------------------------------>-<------------------------------ | |
CACNA1D | ------------------------------>-<------------------------------ | |
CACNA1E | MSVWEQRTSQL--RKHMQMSSQEA-L---->-<--N-REEAPTMNPLNPLNP-LSSL------ | 817 |
CACNA1F | ------------------------------>-<------------------------------ | |
CACNA1G | PSLDGDGDRKKCLALVSLGEHPEL-R---->-<--K-SLLPPLIIHTAATPM-SLPKSTSTGL | 1058 |
CACNA1H | -RELQTTELKMCSLAVTPNGHLEG-R---->-<--G-SLSPPLIMCTAATPM-PTPKS-SPFL | 1094 |
CACNA1I | -GLDSSGDPKLCPIPMTPNGHLDP-S---->-<--L-PLGGHLGPAGAAGPA-P--RL-SLQP | 940 |
CACNA1S | ------------------------------>-<------------------------------ | |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A993T | c.2977G>A | Inherited Arrhythmia | SIFT: Polyphen: | ||
Reports | Inherited Arrhythmia | LQTS | Electrophysiological characterization of a large set of novel variants in the SCN5A-gene: identification of novel LQTS3 and BrS mutations. Pflugers Arch. 2016 468(8):1375-87. doi: 10.1007/s00424-016-1844-3. 27287068 |