No paralogue variants have been mapped to residue 466 for SCN5A.
SCN5A | S---------------------RSSLEMSP>L<APVNSHERRSKRRKR----MS-SGTE-ECG | 490 |
SCN1A | S----EHSREPSAAGRL----SDSSSEASK>L<SSKSAKERRNRRKKRKQKEQS-GGEE-KDE | 517 |
SCN2A | A-----ESRDFSGAGGIGVF-SESSSVASK>L<SSKSEKELKNRRKKKKQKEQS-GEEE-KND | 521 |
SCN3A | A------SRDFSGIGGLGEL-LESSSEASK>L<SSKSAKEWRNRRKKRRQREHL-EGNN-KGE | 519 |
SCN4A | L----------------------------->-<--------------------E-GGEA-DGD | 499 |
SCN7A | ------------------------------>-<------------------------------ | |
SCN8A | AGTVSEDAIEEEGEEGG-GS-PRSSSEISK>L<SSKSAKERRNRRKKRKQKELS-EGEE-KGD | 511 |
SCN9A | E----YTSIRRSRIMGL----SESSSETSK>L<SSKSAKERRNRRKKKNQKKLS-SGEE-KGD | 496 |
SCN10A | S---------------------LHSHNGSP>L<TSKNASERRHRIKPRV----S-EGST-ED- | 473 |
SCN11A | S---------------------LTSLETSY>F<TPKKRKLFGNKKRKS----FF-LRES-GKD | 477 |
CACNA1A | ---------------VILAEDETD------>-<-----------------------------G | 411 |
CACNA1B | ---------------VMLAEEDRN------>-<-----------------------------A | 407 |
CACNA1C | ---------------IDPENEDEG------>-<-----------------------------M | 456 |
CACNA1D | ---------------IDPENEEEG------>-<-----------------------------G | 457 |
CACNA1E | ---------------VMLAEENKN------>-<-----------------------------A | 402 |
CACNA1F | ---------------LDMEDPSAD------>-<-----------------DNLG-SM-----A | 429 |
CACNA1G | -----------RLAQVSRA--AGVR----->-<-----------------VGLLSSPAP-LGG | 473 |
CACNA1H | -----------RSLRLYARW-QSRW----->-<-----------------RK-KVDPSA-VQG | 497 |
CACNA1I | -----------RALGLYQAL-QSRR----->-<-----------------QA-L-GPEAPAPA | 475 |
CACNA1S | ---------------MDVEDFREG------>-<-----------------------------K | 385 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.L466F | c.1398G>T | Inherited Arrhythmia | BrS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | BrS | A comprehensive electrocardiographic, molecular, and echocardiographic study of Brugada syndrome: validation of the 2013 diagnostic criteria. Heart Rhythm. 2014 11(7):1176-83. doi: 10.1016/j.hrthm.2014.04.010. 24721456 |