Paralogue Annotation for SCN5A residue 988

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 988
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 988

No paralogue variants have been mapped to residue 988 for SCN5A.



SCN5A-----RTTWDFCC-----------GLLRQ->R<PQKPAALA-A----QGQLPSCIATPYSPPP1013
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
CACNA1ANQKPAKSVWEQRTSEM--RKQNLLASREA->L<-------Y-NEMDPDERWKAAYTR-HLRPD815
CACNA1BNSAKARSVWEQRASQL--RLQNLRASCEA->L<-------Y-SEMDPEERLRFATTR-HLRPD809
CACNA1CP----------------------------->-<------------------------------784
CACNA1DL----------------------------->-<------------------------------803
CACNA1ERRRHHMSVWEQRTSQL--RKHMQMSSQEA->L<-------N-REEAPTMNPLNPLNP-LSSL-817
CACNA1FL----------------------------->-<------------------------------789
CACNA1GPDFFSPSLDGDGDRKKCLALVSLGEHPEL->R<-------K-SLLPPLIIHTAATPM-SLPKS1053
CACNA1H------RELQTTELKMCSLAVTPNGHLEG->R<-------G-SLSPPLIMCTAATPM-PTPKS1090
CACNA1I------GLDSSGDPKLCPIPMTPNGHLDP->S<-------L-PLGGHLGPAGAAGPA-P--RL936
CACNA1SE----------------------------->-<------------------------------695
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R988Wc.2962C>T Inherited ArrhythmiaBrSSIFT:
Polyphen:
ReportsInherited ArrhythmiaBrS 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.R988Qc.2963G>A Putative BenignSIFT:
Polyphen: