No paralogue variants have been mapped to residue 665 for SCN5A.
| SCN5A | GGPQMLTSQAPCVD-GFEEPGARQR-A-LS>A<VSVLTSA----L-EELE-ESR--------- | 680 |
| SCN1A | MRKRRSSSFHVSMD-FLEDPSQRQR-A-MS>I<ASILTNT----V-EELE-ESR--------- | 731 |
| SCN2A | IRKRRSSSYHVSMD-LLEDPTSRQR-A-MS>I<ASILTNT----M-EELE-ESR--------- | 722 |
| SCN3A | VRKRRLSSYQISME-MLEDSSGRQR-A-VS>I<ASILTNT----M-EELE-ESR--------- | 723 |
| SCN4A | ---------------E---KGAPRQ-S-SS>G<DSGISDA----M-EELE-EAH--------- | 541 |
| SCN7A | MKKRSPISTDTSLD-VLEDATLRHK----->-<-------------EELE-KSK--------- | 468 |
| SCN8A | IKKKGPGSLLVSMD-QLASYGRKDR-I-NS>I<MSVVTNTL---V-EELE-ESQ--------- | 716 |
| SCN9A | -KKRRCSSYLLSED-MLNDPNLRQR-A-MS>R<ASILTNT----V-EELE-ESR--------- | 696 |
| SCN10A | ---AGQKKTFLSAE-YLDEPFRAQR-A-MS>V<VSIITSV----L-EELE-ESE--------- | 628 |
| SCN11A | -KRLSQNLSLDHFD-EHGDPLQRQR-A-LS>A<VSILTIT----M-KEQE-KSQ--------- | 540 |
| CACNA1A | -----LLNPEEAED-QLA----DIA-S-VG>-<------------------------------ | 450 |
| CACNA1B | -----LIHAEEGED-RFA----DLC-A-VG>-<------------------------------ | 446 |
| CACNA1C | -----SVNTENVAG-G-D----IEGEN-CG>-<------------------------------ | 490 |
| CACNA1D | -----SVNTENVSG-EGE----NRG-C-CG>S<LWCWWR-------RRGA-AKA--------- | 504 |
| CACNA1E | -----AMTRDSSDE-HCV----DIS-S-VG>-<------------------------------ | 439 |
| CACNA1F | -----RS-THSTSSHASL----P-A-SDTG>S<MTETQG-------DEDE-EEG--------- | 490 |
| CACNA1G | -----ADSGACGPD-SCP----YCA-R-AG>-<----AG-----EVELADREMP-DSDSEAVY | 694 |
| CACNA1H | -----AGTLTCELK-SCP----YCT-R-AL>-<----ED-P---EGELSGSESG-DSDGRGVY | 728 |
| CACNA1I | -----------DPA-SCP----CCQ-H-ED>-<----GR-RPSGLGS---TDSGQEGSGSGSS | 582 |
| CACNA1S | -----SLY-EI------------------->-<-------------------AG--------- | 403 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.A665S | c.1993G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
| Reports | Inherited Arrhythmia | LQTS | Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430 | ||
| p.A665T | c.1993G>A | Putative Benign | SIFT: Polyphen: | ||