No paralogue variants have been mapped to residue 2005 for SCN5A.
| SCN5A | ----------------------------DF>P<PSPDRDRESIV | 2016 |
| SCN1A | ------------------------------>-<-KG-------K | 2009 |
| SCN2A | ------------------------------>-<-KGKDIRESKK | 2005 |
| SCN3A | ------------------------------>-<-KGKEVRENQK | 2000 |
| SCN4A | ------------------------------>-<-VRPGVKESLV | 1836 |
| SCN7A | ------------------------------>-<------IQSQI | 1682 |
| SCN8A | ------------------------------>-<-RQKEVRESKC | 1980 |
| SCN9A | ------------------------------>-<-KGKDSKESKK | 1977 |
| SCN10A | ------------------------------>-<-TSMELIAPGP | 1956 |
| SCN11A | ------------------------------>-<----------D | 1791 |
| CACNA1A | ----------------------------RS>P<SEGREHMAHRQ | 2261 |
| CACNA1B | HCTLG-LS--------------SGGR--AR>H<SYHHPDQDHWC | 2340 |
| CACNA1C | EDA----------GCV-----RARGRPSEE>E<LQDSRVYVSSL | 2138 |
| CACNA1D | YSD----------E-E-----PDPGR-DEE>D<LADEMICITTL | 2181 |
| CACNA1E | YRRRR-RG-----GPG-----PGMMCGAVN>N<LLSDTEEDDKC | 2313 |
| CACNA1F | YSD----------E-E-----SILSRFDEE>D<LGDEMACVHAL | 1977 |
| CACNA1G | ------------------------------>-<----------P | 2377 |
| CACNA1H | PPEKRRGLYLTVPQ-CPLEKPGSPSA--TP>A<-PG-GGADDPV | 2353 |
| CACNA1I | --------------------PQPLPG--EL>E<-PGDAASKRKR | 2223 |
| CACNA1S | ---------------G-----SSLGSLDQH>Q<GSQETLIPPRL | 1873 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.P2005A | c.6013C>G | Cardiomyopathy | LQTS,DCM | rs199473337 | SIFT: tolerated Polyphen: benign |
| Reports | Inherited Arrhythmia | LQTS | Gene sequencing in neonates and infants with the long QT syndrome. Genet Test. 2005 9(4):281-4. 16379539 | ||
| Cardiomyopathy | DCM | Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008 1(1):21-6. 19412328 | |||
| Unknown | New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants. Eur J Hum Genet. 2013 23299917 | ||||
| p.P2005L | c.6014C>T | Putative Benign | SIFT: Polyphen: | ||
| p.P2005S | c.6013C>T | Putative Benign | SIFT: Polyphen: | ||