Paralogue Annotation for SCN5A residue 1073

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1073
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1073

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	E1015K	Reduced function	Low	2	20156848, 24108129, 25356970, 25356970

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.

SCN5A	-------EENSLGTEEE------------->S<SKQQESQPVS--------------------	1083
SCN1A	-------DFSSESDLEE------------->S<K---E-------------------------	1143
SCN2A	-------EFSSESDMEE------------->S<K---E-------------------------	1133
SCN3A	-------EFSSESELEE------------->S<K---E-------------------------	1131
SCN4A	-------ETDTFSEPED------------->S<KKPPQ-------------------------	955
SCN7A	-------EIQSKSGDGG------------->S<K---E-------------------------	864
SCN8A	-------DVSSESDPEG------------->S<K---D-------------------------	1124
SCN9A	-------ELSSDSDSEY------------->S<K---V-------------------------	1106
SCN10A	-E-----TWKDESVPQV------------->P<A---E-------------------------	1076
SCN11A	-------NAQRITQPEP------------->E<QQAYEL------------------------	949
CACNA1A	----------------------RHGAPATY>E<GDARREDKERRHRRRKENQGSGVPVSGPNL	1045
CACNA1B	----------------------RARHKAQP>A<HEAVEKETT---------------------	998
CACNA1C	-ET-----TGEEDEEEP------------->-<------------------------------	851
CACNA1D	-DVPVGEEEEEEEEDEP------------->-<------------------------------	857
CACNA1E	TPL-----VLPHPELEVGKHVVLTEQEPEG>S<SEQALLGNVQLD------------------	1041
CACNA1F	-DMEEEEEEEEEEEEEE------------->-<------------------------------	822
CACNA1G	-PL-----DGDDADDEG------------->-<------------------------------	1228
CACNA1H	-RE-----DAAELDDDS------------->-<------------------------------	1246
CACNA1I	-RG-----DRGEDEEEI------------->-<------------------------------	1122
CACNA1S	-DF-----PGDDEEDEP------------->-<------------------------------	750
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 1073 for SCN5A.