| Paralogue | Variant | Associated Disease | Mapping Quality | Consensus | Pubmed |
|---|---|---|---|---|---|
| CACNA1F | A157P | Night blindness, congenital stationary 2 | Medium | 9 | 23714322 |
To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.
| SCN5A | KYVEYTFTA-IYTFESLVKILARGFCLHAF>T<FLRDPWNWLDFSVIIMAYVSENIKLG---- | 213 |
| SCN1A | KNVEYTFTG-IYTFESLIKIIARGFCLEDF>T<FLRDPWNWLDFTVITFAYVTEFVDLG---- | 210 |
| SCN2A | KNVEYTFTG-IYTFESLIKILARGFCLEDF>T<FLRDPWNWLDFTVITFAYVTEFVDLG---- | 211 |
| SCN3A | KNVEYTFTG-IYTFESLIKILARGFCLEDF>T<FLRDPWNWLDFSVIVMAYVTEFVDLG---- | 210 |
| SCN4A | KNVEYTFTG-IYTFESLIKILARGFCVDDF>T<FLRDPWNWLDFSVIMMAYLTEFVDLG---- | 213 |
| SCN7A | PVLENTLLG-IYTFEILVKLFARGVWAGSF>S<FLGDPWNWLDFSVTVFEVIIRYSPLD---- | 200 |
| SCN8A | KNVEYTFTG-IYTFESLVKIIARGFCIDGF>T<FLRDPWNWLDFSVIMMAYITEFVNLG---- | 214 |
| SCN9A | KNVEYTFTG-IYTFESLVKILARGFCVGEF>T<FLRDPWNWLDFVVIVFAYLTEFVNLG---- | 208 |
| SCN10A | -KIEYVFTV-IYTFEALIKILARGFCLNEF>T<YLRDPWNWLDFSVITLAYVGTAIDLR---- | 209 |
| SCN11A | DIAECVFTG-IYIFEALIKILARGFILDEF>S<FLRDPWNWLDSIVIGIAIVSYIPGIT---- | 215 |
| CACNA1A | DDTEPYFIG-IFCFEAGIKIIALGFAFHKG>S<YLRNGWNVMDFVVVLTGILATVGTEF---- | 189 |
| CACNA1B | DDTEPYFIG-IFCFEAGIKIIALGFVFHKG>S<YLRNGWNVMDFVVVLTGILATAGTDF---- | 186 |
| CACNA1C | ERVEYLFLI-IFTVEAFLKVIAYGLLFHPN>A<YLRNGWNLLDFIIVVVGLFSAILEQATKA- | 218 |
| CACNA1D | EKVEYAFLI-IFTVETFLKIIAYGLLLHPN>A<YVRNGWNLLDFVIVIVGLFSVILEQLTKET | 221 |
| CACNA1E | EKTEPYFIG-IFCFEAGIKIVALGFIFHKG>S<YLRNGWNVMDFIVVLSGILATAGTHFN--- | 181 |
| CACNA1F | EQVEYVFLV-IFTVETVLKIVAYGLVLHPS>A<YIRNGWNLLDFIIVVVGLFSVLLEQGPGRP | 187 |
| CACNA1G | LQAFDDFIFAFFAVEMVVKMVALGI-FGKK>C<YLGDTWNRLDFFIVIAGMLEYSLDLQ---- | 172 |
| CACNA1H | LEAFDAFIFAFFAVEMVIKMVALGL-FGQK>C<YLGDTWNRLDFFIVVAGMMEYSLDGH---- | 191 |
| CACNA1I | LQVFDDFIFIFFAMEMVLKMVALGI-FGKK>C<YLGDTWNRLDFFIVMAGMVEYSLDLQ---- | 170 |
| CACNA1S | EKLEYFFLI-VFSIEAAMKIIAYGFLFHQD>A<YLRSGWNVLDFTIVFLGVFTVILEQVNVIQ | 146 |
| cons | > < |
| Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
|---|---|---|---|---|---|
| p.T187I | c.560C>T | Inherited Arrhythmia | BrS | rs199473558 | SIFT: deleterious Polyphen: probably damaging |
| Reports | Inherited Arrhythmia | BrS | High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations. J Am Coll Cardiol. 2005 46(11):2100-6. 16325048 | ||
| Inherited Arrhythmia | BrS | Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome. PLoS One. 2010 5(6):e10985. 20539757 | |||
| p.T187S | c.560C>G | Putative Benign | SIFT: Polyphen: | ||
| p.Thr187Ala | c.559A>G | Unknown | SIFT: Polyphen: | ||