Paralogue Annotation for SCN5A residue 468

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 468
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 468

No paralogue variants have been mapped to residue 468 for SCN5A.



SCN5A--------------------RSSLEMSPLA>P<VNSHERRSKRRKR----MS-SGTE-ECGED492
SCN1A---EHSREPSAAGRL----SDSSSEASKLS>S<KSAKERRNRRKKRKQKEQS-GGEE-KDE-D518
SCN2A----ESRDFSGAGGIGVF-SESSSVASKLS>S<KSEKELKNRRKKKKQKEQS-GEEE-KND--521
SCN3A-----SRDFSGIGGLGEL-LESSSEASKLS>S<KSAKEWRNRRKKRRQREHL-EGNN-KGERD521
SCN4A------------------------------>-<------------------E-GGEA-DGD--499
SCN7A------------------------------>-<------------------------------
SCN8ATVSEDAIEEEGEEGG-GS-PRSSSEISKLS>S<KSAKERRNRRKKRKQKELS-EGEE-KGDPE513
SCN9A---YTSIRRSRIMGL----SESSSETSKLS>S<KSAKERRNRRKKKNQKKLS-SGEE-KGDAE498
SCN10A--------------------LHSHNGSPLT>S<KNASERRHRIKPRV----S-EGST-ED--N474
SCN11A--------------------LTSLETSYFT>P<KKRKLFGNKKRKS----FF-LRES-GKD--477
CACNA1A-------------VILAEDETD-------->-<---------------------------GEQ413
CACNA1B-------------VMLAEEDRN-------->-<---------------------------AEE409
CACNA1C-------------IDPENEDEG-------->-<---------------------------MD-457
CACNA1D-------------IDPENEEEG-------->-<---------------------------GE-458
CACNA1E-------------VMLAEENKN-------->-<---------------------------AGT404
CACNA1F-------------LDMEDPSAD-------->-<---------------DNLG-SM-----AE-430
CACNA1G---------RLAQVSRA--AGVR------->-<---------------VGLLSSPAP-LGGQE475
CACNA1H---------RSLRLYARW-QSRW------->-<---------------RK-KVDPSA-VQGQG499
CACNA1I---------RALGLYQAL-QSRR------->-<---------------QA-L-GPEAPAPAK-476
CACNA1S-------------MDVEDFREG-------->-<---------------------------KL-386
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P468Lc.1403C>T Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther Cardiac Phenotype Next-generation sequencing of 34 genes in sudden unexplained death victims in forensics and in patients with channelopathic cardiac diseases. Int J Legal Med. 2015 129(4):793-800. doi: 10.1007/s00414-014-1105-y. 25467552