Paralogue Annotation for SCN5A residue 1973

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1973
Reference Amino Acid: F - Phenylalanine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1973

No paralogue variants have been mapped to residue 1973 for SCN5A.



SCN5A-----------------------SSISSTS>F<-P----------PSYDSVT-----------1981
SCN1A-----------------------DLTMSTA>A<CP----------PSYDRVT-----------1990
SCN2A-----------------------DMTPSTT>S<-P----------PSYDSVT-----------1979
SCN3A-----------------------DGSSSTT>S<-P----------PSYDSVT-----------1974
SCN4A-----------------------EKGEAGD>A<-G----------PTMGLMP-----------1809
SCN7A------------------------------>-<------------------------------
SCN8A-----------------------ESTPSTA>S<-L----------PSYDSVT-----------1951
SCN9A-----------------------DATSSTT>S<-P----------PSYDSVT-----------1951
SCN10A-----------------------ETASATS>F<-P----------PSYESVT-----------1925
SCN11A-----------------------L------>-<-------------CNGDLS-----------1779
CACNA1A------------------------------>-<---------------------------ENQ2102
CACNA1B------------------------------>-<---------------------------ETQ2011
CACNA1CQRPLHINKAGSS-QGDTESPSHEKLVDSTF>T<PSSY-------SSTGSNANI--NNANNTAL1775
CACNA1DHRPLHVQRPSIPPASDTEKPLFPPAGNSVC>H<NHHNHNSIGKQVPTSTNANL--NNANMSKA1786
CACNA1E------------------------------>-<---------------------------DPQ2009
CACNA1FPDSLSFG---P----------SDDDRG--->-<-----------TPTSSQPSV--PQAGSNTH1718
CACNA1GDT-----------SYILQLPKDAPHLLQPH>S<-APT--------WGTIPKLPPPG---RSPL2125
CACNA1HGE-----------EAEASDPADEEVSHITS>S<-ACP--------WQPTAEPH----------2118
CACNA1IVN-----------CTLLRQATGSDTSLDAS>P<-SSS--------AGSL-QTTLED---SLT-2037
CACNA1SQRPLQFAEIE---MEEMESPVFLE---D-F>P<QDPR-------TNPLARANT--NNAN----1665
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.F1973Lc.5917T>C Putative BenignSIFT: tolerated
Polyphen: benign