Paralogue Annotation for SCN5A residue 1159

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1159
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1159

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN3A	E1160K	Epilepsy, focal	Low	1	24157691

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	-----DSCSEGSTADMTNTAELLEQIPDLG>Q<DVKDP------------------EDCFTEG	1171
SCN1A	-----SSSSEGSTVDIGAPVE--EQPVVEP>E<ETLEP------------------EACFTEG	1184
SCN2A	-----TSSSEGSTVDIGAPAEG-EQPEVEP>E<ESLEP------------------EACFTED	1174
SCN3A	-----TSSSEGSTVDVVLPREG-EQAETEP>E<EDLKP------------------EACFTEG	1172
SCN4A	-----GNSSVCSTADYKPPEEDPEEQAEEN>P<EGEQP------------------EECFTEA	997
SCN7A	-----SSSSECSTVDIAISEEE--EM---->F<YGGER------------------SKHLKNG	900
SCN8A	-----TSSSEGSTIDIKPEVE--EVPVEQP>E<EYLDP------------------DACFTEG	1164
SCN9A	-----SSSSECSTVDNPLPGEG-EEAEAEP>M<NSDEP------------------EACFTDG	1147
SCN10A	-----TSSSEGSTVDCLDPEEILRKIPELA>D<DLEEP------------------DDCFTEG	1118
SCN11A	----TSILSECSTIDLQDGFG--WLP--EM>V<PKKQP------------------ERCLPKG	1022
CACNA1A	NSAKTARKPDHTTVDIPPACPPPL------>-<--NHTVVQVNKNANPDPLPKKEEEKKEEEE	1207
CACNA1B	TRMGSQPPDPNTIVHIPVMLTGPL------>-<--GEATVVPSGNVD---LESQAEGKKEVEA	1114
CACNA1C	---------------------RPL------>-<--SEL----------H--------------	866
CACNA1D	---------------------RRI------>-<--SEL----------N--------------	872
CACNA1E	-------LVDSTVVHISNKTDG-------->-<---EASPLKEAEI----REDEEEVEKKKQK	1117
CACNA1F	---------------------ELL------>-<--QEV----------V--------------	837
CACNA1G	---------------------RAW------>-<--IRA----------R--------------	1243
CACNA1H	---------------------HKV------>-<--LEP----------Y--------------	1261
CACNA1I	---------------------RKM------>-<--IDV----------Y--------------	1137
CACNA1S	---------------------RPL------>-<--AEL----------Q--------------	765
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 1159 for SCN5A.