Paralogue Annotation for SCN5A residue 538

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 538
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 538

No paralogue variants have been mapped to residue 538 for SCN5A.



SCN5ASSRG--SIF------T--FRR-----R-DL>G<-----SEA-------DFADDENSTAGESES556
SCN1ANSRT--SLF------S--FRG---RAK-DV>G<-----SEN-------DFADDEHSTFEDNES603
SCN2ANSRA--SLF------S--FRG---RAK-DI>G<-----SEN-------DFADDEHSTFEDNDS606
SCN3ANSKT--SIF------S--FRG---RAK-DV>G<-----SEN-------DFADDEHSTFEDSES606
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8ANSKS--SIF------S--FRGPG-RFR-DP>G<-----SEN-------EFADDEHSTVEESEG596
SCN9ASSRT--SLF------S--FKG---RGR-DI>G<-----SET-------EFADDEHSIFGDNES583
SCN10AASHG--SVF------H--FRS---PGR-DI>S<-----LPE-------GVTDDG-VFPGDHES532
SCN11A------------------------------>-<------------------------------
CACNA1A-PFDG-ALR------R--TTI---K-K--->-<-----SKT----------------------431
CACNA1B-PLDA-VLK------R--AAT---K-K--->-<-----SRN----------------------427
CACNA1C----EEKPR------N--MSM---P----->T<-----SET----------------------471
CACNA1D----E-GKR------N--TSM---P----->T<-----SET----------------------471
CACNA1E-L--E-VLR------R--ATI---K-R--->-<-----SRT----------------------420
CACNA1F----E-G-RAGHRPQL--AEL---T-NRRR>G<RLRWFSHS----------------------457
CACNA1GSPEIQ-DRD------ANGSRRLMLP-P--->-<-----PS-TPALSGAPPGGAESVHSFYHAD560
CACNA1HEPGAC-DTR------LVR-----AG-A--->-<-----PPSPPSPGRGPPD-AESVHSIYHAD579
CACNA1I------------------------------>-<------A--------SPGNDHSGRELCPQH528
CACNA1S---------------S--LDE---G----->G<-----SDT----------------------395
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G538Dc.1613G>A Putative BenignSIFT:
Polyphen: