Paralogue Annotation for SCN5A residue 987

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 987
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 987

No paralogue variants have been mapped to residue 987 for SCN5A.



SCN5A-------RTTWDFCC-----------GLLR>Q<-RPQKPAALA-A----QGQLPSCIATPYSP1011
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
CACNA1AQKNQKPAKSVWEQRTSEM--RKQNLLASRE>A<-L-------Y-NEMDPDERWKAAYTR-HLR813
CACNA1BQQNSAKARSVWEQRASQL--RLQNLRASCE>A<-L-------Y-SEMDPEERLRFATTR-HLR807
CACNA1C--P--------------------------->-<------------------------------784
CACNA1D--L--------------------------->-<------------------------------803
CACNA1EERRRRHHMSVWEQRTSQL--RKHMQMSSQE>A<-L-------N-REEAPTMNPLNPLNP-LSS816
CACNA1F--L--------------------------->-<------------------------------789
CACNA1G--PDFFSPSLDGDGDRKKCLALVSLGEHPE>L<-R-------K-SLLPPLIIHTAATPM-SLP1051
CACNA1H--------RELQTTELKMCSLAVTPNGHLE>G<-R-------G-SLSPPLIMCTAATPM-PTP1088
CACNA1I--------GLDSSGDPKLCPIPMTPNGHLD>P<-S-------L-PLGGHLGPAGAAGPA-P--934
CACNA1S--E--------------------------->-<------------------------------695
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q987Hc.2961G>C Putative BenignSIFT: tolerated
Polyphen: benign