Paralogue Annotation for SCN5A residue 463

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 463
Reference Amino Acid: M - Methionine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 463

No paralogue variants have been mapped to residue 463 for SCN5A.



SCN5ADTVS---------------------RSSLE>M<SPLAPVNSHERRSKRRKR----MS-SGTE-487
SCN1AATAS----EHSREPSAAGRL----SDSSSE>A<SKLSSKSAKERRNRRKKRKQKEQS-GGEE-514
SCN2AAASA-----ESRDFSGAGGIGVF-SESSSV>A<SKLSSKSEKELKNRRKKKKQKEQS-GEEE-518
SCN3AASAA------SRDFSGIGGLGEL-LESSSE>A<SKLSSKSAKEWRNRRKKRRQREHL-EGNN-516
SCN4AAQAL-------------------------->-<-----------------------E-GGEA-496
SCN7A------------------------------>-<------------------------------
SCN8AATSAGTVSEDAIEEEGEEGG-GS-PRSSSE>I<SKLSSKSAKERRNRRKKRKQKELS-EGEE-508
SCN9AAAAE----YTSIRRSRIMGL----SESSSE>T<SKLSSKSAKERRNRRKKKNQKKLS-SGEE-493
SCN10ADTTS---------------------LHSHN>G<SPLTSKNASERRHRIKPRV----S-EGST-471
SCN11ADRSS---------------------LTSLE>T<SYFTPKKRKLFGNKKRKS----FF-LRES-474
CACNA1AE-----------------VILAEDETD--->-<------------------------------410
CACNA1BE-----------------VMLAEEDRN--->-<------------------------------406
CACNA1CD-----------------IDPENEDEG--->-<------------------------------455
CACNA1DD-----------------IDPENEEEG--->-<------------------------------456
CACNA1EE-----------------VMLAEENKN--->-<------------------------------401
CACNA1FE-----------------LDMEDPSAD--->-<--------------------DNLG-SM---428
CACNA1GR-------------RLAQVSRA--AGVR-->-<--------------------VGLLSSPAP-470
CACNA1HR-------------RSLRLYARW-QSRW-->-<--------------------RK-KVDPSA-494
CACNA1IR-------------RALGLYQAL-QSRR-->-<--------------------QA-L-GPEAP472
CACNA1SV-----------------MDVEDFREG--->-<------------------------------384
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.M463Tc.1388T>C Putative BenignSIFT:
Polyphen:
p.M463Rc.1388T>G Putative BenignSIFT:
Polyphen: