No paralogue variants have been mapped to residue 988 for SCN5A.
SCN5A | -----RTTWDFCC-----------GLLRQ->R<PQKPAALA-A----QGQLPSCIATPYSPPP | 1013 |
SCN1A | -----RKIYEFIQ-----------QSFIR->K<QKILDEIK-PLDDLNNKKDSCMSNHT---- | 1066 |
SCN2A | -----RKIREFIQ-----------KAFVR->K<QKALDEIK-PLEDLNNKKDSCISNHT---- | 1057 |
SCN3A | -----NKMRECFQ-----------KAFFR->K<PKVI-EIH-E----GNKIDSCMSNNT---- | 1053 |
SCN4A | -----AFLLGLLH-----------GKILS->P<KDIMLSLG-EADGAGEAGEAGETAPE---- | 876 |
SCN7A | -----LKILCKTQ-----------NVP--->-<---KDTMD-HVNEVYVKED--ISDHTL--- | 795 |
SCN8A | -----LKVHAFMQ-----------AHFKQ->R<--EADEVK-PLDELYEKKANCIANHT---- | 1049 |
SCN9A | -----QTLREFIL-----------KAFSK->K<PKISREIR-QAEDLNTKKENYISNHT---- | 1031 |
SCN10A | --RTKQALCSFFS-----------RSCPFP>Q<PKAEPELVVKLPLSSSKAENHIAANT---- | 966 |
SCN11A | -----HTLEHFCH-----------KWCRK->Q<-NLPQQ--------KEVAGGCAAQ------ | 876 |
CACNA1A | NQKPAKSVWEQRTSEM--RKQNLLASREA->L<-------Y-NEMDPDERWKAAYTR-HLRPD | 815 |
CACNA1B | NSAKARSVWEQRASQL--RLQNLRASCEA->L<-------Y-SEMDPEERLRFATTR-HLRPD | 809 |
CACNA1C | P----------------------------->-<------------------------------ | 784 |
CACNA1D | L----------------------------->-<------------------------------ | 803 |
CACNA1E | RRRHHMSVWEQRTSQL--RKHMQMSSQEA->L<-------N-REEAPTMNPLNPLNP-LSSL- | 817 |
CACNA1F | L----------------------------->-<------------------------------ | 789 |
CACNA1G | PDFFSPSLDGDGDRKKCLALVSLGEHPEL->R<-------K-SLLPPLIIHTAATPM-SLPKS | 1053 |
CACNA1H | ------RELQTTELKMCSLAVTPNGHLEG->R<-------G-SLSPPLIMCTAATPM-PTPKS | 1090 |
CACNA1I | ------GLDSSGDPKLCPIPMTPNGHLDP->S<-------L-PLGGHLGPAGAAGPA-P--RL | 936 |
CACNA1S | E----------------------------->-<------------------------------ | 695 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R988W | c.2962C>T | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | Genetics can contribute to the prognosis of Brugada syndrome: a pilot model for risk stratification. Eur J Hum Genet. 2013 21(9):911-7. doi: 10.1038/ejhg.2012.289. 23321620 | ||
p.R988Q | c.2963G>A | Putative Benign | SIFT: Polyphen: |