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

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN3AE1160KEpilepsy, focalLow1 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------------------EDCFTEG1171
SCN1A-----SSSSEGSTVDIGAPVE--EQPVVEP>E<ETLEP------------------EACFTEG1184
SCN2A-----TSSSEGSTVDIGAPAEG-EQPEVEP>E<ESLEP------------------EACFTED1174
SCN3A-----TSSSEGSTVDVVLPREG-EQAETEP>E<EDLKP------------------EACFTEG1172
SCN4A-----GNSSVCSTADYKPPEEDPEEQAEEN>P<EGEQP------------------EECFTEA997
SCN7A-----SSSSECSTVDIAISEEE--EM---->F<YGGER------------------SKHLKNG900
SCN8A-----TSSSEGSTIDIKPEVE--EVPVEQP>E<EYLDP------------------DACFTEG1164
SCN9A-----SSSSECSTVDNPLPGEG-EEAEAEP>M<NSDEP------------------EACFTDG1147
SCN10A-----TSSSEGSTVDCLDPEEILRKIPELA>D<DLEEP------------------DDCFTEG1118
SCN11A----TSILSECSTIDLQDGFG--WLP--EM>V<PKKQP------------------ERCLPKG1022
CACNA1ANSAKTARKPDHTTVDIPPACPPPL------>-<--NHTVVQVNKNANPDPLPKKEEEKKEEEE1207
CACNA1BTRMGSQPPDPNTIVHIPVMLTGPL------>-<--GEATVVPSGNVD---LESQAEGKKEVEA1114
CACNA1C---------------------RPL------>-<--SEL----------H--------------866
CACNA1D---------------------RRI------>-<--SEL----------N--------------872
CACNA1E-------LVDSTVVHISNKTDG-------->-<---EASPLKEAEI----REDEEEVEKKKQK1117
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.