Paralogue Annotation for SCN5A residue 1050

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1050
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1050

No paralogue variants have been mapped to residue 1050 for SCN5A.



SCN5A------------------------PVCVPI>A<VAESD------TDD------------QEED1062
SCN1A---------------------PSLTVTVPI>A<VGESD------FEN------------LNTE1130
SCN2A---------------------PSLTVTVPI>A<VGESD------FEN------------LNTE1120
SCN3A---------------------PSLTVTVPI>A<VGESD------FEN------------LNTE1118
SCN4A---------------------PYLTIQVPI>A<SEESD------LEM------------PTEE939
SCN7A---------------------PSVSETVPI>A<SGESD------IEN------------LDNK851
SCN8A---------------------PNLTVRVPI>A<VGESD------FEN------------LNTE1111
SCN9A---------------------PSLTVTVPI>A<PGESD------LEN------------MNAE1093
SCN10A---------------------PTVWVSVPI>A<EGESD------LDD------------LEDD1012
SCN11A------------------------TWLAPL>A<EEEDD------VEF------------SGED932
CACNA1AFWEGEAERGKAGDPHRRHVHRQGGSRESRS>G<SPRTG------ADGEHRRHRAHRR--PGEE968
CACNA1BPPEARSERGR-------GPGPEGGRRHHRR>G<SPEEA------AEREPRRHRAHRH--QDPS945
CACNA1C---------------GESK----------->-<--------------------EEKIELKSIT810
CACNA1D------------------------------>-<--------------------------NQIA817
CACNA1EGGEAVVTFED-----------RARHRQSQR>R<SRHRRVRTEGKESSSASRSRSASQERSLDE950
CACNA1F------------------------------>-<------------------------------
CACNA1G----P-----------------SLKRRSPS>G<ERRSL------LSG------------EGQE1138
CACNA1H----P-----------------SLKRRGQC>G<ERESL------LSG------------EGKG1173
CACNA1I----P-----------------------PS>A<EHESL------LSA------------ERGG1013
CACNA1S------------------------------>-<--------------------------EQKP709
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.A1050Vc.3149C>T Putative BenignSIFT: deleterious
Polyphen: probably damaging