Paralogue Annotation for SCN5A residue 1084

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1084
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1084

No paralogue variants have been mapped to residue 1084 for SCN5A.



SCN5A------------------------------>G<GPEAP-----PDSRTWSQVSATASS-----1104
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<-------------------HQENKK-----955
CACNA1AGPNLSTTRPIQQDLGRQDPPLAEDIDNMKN>N<KLATAESAAPHGSLGHAGLPQSPAKMGNST1102
CACNA1B------------------------------>-<-------EKE--------ATEKEAEIVEAD1013
CACNA1C------------------------------>-<----------EMPVGPRP------------859
CACNA1D------------------------------>-<----------EVPAGPRP------------865
CACNA1E------------------------------>-<------------------MGRVI-------1046
CACNA1F------------------------------>-<----------EEEGAGGV------------830
CACNA1G------------------------------>-<----------NLSKGERV------------1236
CACNA1H------------------------------>-<----------EDSCCLRL------------1254
CACNA1I------------------------------>-<----------DYTLCFRV------------1130
CACNA1S------------------------------>-<----------EIPLSPRP------------758
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G1084Sc.3250G>A Other Cardiac Phenotypers199473190SIFT: tolerated
Polyphen: benign
ReportsOther Cardiac Phenotype Cardiac ion channel gene mutations in sudden infant death syndrome. Pediatr Res. 2008 64(5):482-7. 18596570
Other Cardiac Phenotype Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes. Genet Med. 2015 17(12):1007-11. doi: 10.1038/gim.2015.26. 25856671
p.Gly1084Argc.3250G>C UnknownSIFT:
Polyphen: