No paralogue variants have been mapped to residue 110 for SCN5A.
SCN5A | DLDPFYSTQK-TFI-VLNKGKTIFRFSATN>A<LYVLSPFHPIRRAAVKILVHSLFNMLIMCT | 140 |
SCN1A | DLDPYYINKK-TFI-VLNKGKAIFRFSATS>A<LYILTPFNPLRKIAIKILVHSLFSMLIMCT | 137 |
SCN2A | DLDPYYINKK-TFI-VLNKGKAISRFSATP>A<LYILTPFNPIRKLAIKILVHSLFNMLIMCT | 138 |
SCN3A | DLDPYYINKK-TFI-VMNKGKAIFRFSATS>A<LYILTPLNPVRKIAIKILVHSLFSMLIMCT | 137 |
SCN4A | DLDPYYSNKK-TFI-VLNKGKAIFRFSATP>A<LYLLSPFSVVRRGAIKVLIHALFSMFIMIT | 140 |
SCN7A | DVDPYYYKKKNTFI-VLNKNRTIFRFNAAS>I<LCTLSPFNCIRRTTIKVLVHPFFQLFILIS | 127 |
SCN8A | DFDPYYLTQK-TFV-VLNRGKTLFRFSATP>A<LYILSPFNLIRRIAIKILIHSVFSMIIMCT | 141 |
SCN9A | DLDPYYADKK-TFI-VLNKGKTIFRFNATP>A<LYMLSPFSPLRRISIKILVHSLFSMLIMCT | 135 |
SCN10A | DLDPFYSTHR-TFM-VLNKGRTISRFSATR>A<LWLFSPFNLIRRTAIKVSVHSWFSLFITVT | 139 |
SCN11A | DLDPFYRNHK-TFM-VLNRKRTIYRFSAKH>A<LFIFGPFNSIRSLAIRVSVHSLFSMFIIGT | 138 |
CACNA1A | YKQSMAQRARTMAL-YNPIPVRQNCLTVNR>S<LFLFSEDNVVRKYAKKITEWPPFEYMILAT | 107 |
CACNA1B | YKQSIAQRARTMAL-YNPIPVKQNCFTVNR>S<LFVFSEDNVVRKYAKRITEWPPFEYMILAT | 104 |
CACNA1C | TVSST-QRKRQQYG-KPKKQGSTTATRPPR>A<LLCLTLKNPIRRACISIVEWKPFEIIILLT | 133 |
CACNA1D | PVGSLSQRKRQQYA-KSKKQGNSSNSRPAR>A<LFCLSLNNPIRRACISIVEWKPFDIFILLA | 135 |
CACNA1E | YKQTKAQRARTMAL-YNPIPVRQNCFTVNR>S<LFIFGEDNIVRKYAKKLIDWPPFEYMILAT | 98 |
CACNA1F | ASGLGTPKRRNQHS-KHKTVAVASAQRSPR>A<LFCLTLANPLRRSCISIVEWKPFDILILLT | 101 |
CACNA1G | -------EKDPG-SADSEAEGLPYPALAPV>V<FFYLSQDSRPRSWCLRTVCNPWFERISMLV | 90 |
CACNA1H | -------ERGAELG-ADEEQRVPYPALAAT>V<FFCLGQTTRPRSWCLRLVCNPWFEHVSMLV | 109 |
CACNA1I | -------LEEPL-D-G-ADPHVPHPDLAPI>A<FFCLRQTTSPRNWCIKMVCNPWFECVSMLV | 88 |
CACNA1S | ---SSPQDEGLRKK-QPKKPVPEILPRPPR>A<LFCLTLENPLRKACISIVEWKPFETIILLT | 60 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A110T | c.328G>A | Inherited Arrhythmia | LQTS | SIFT: deleterious Polyphen: probably damaging | |
Reports | Inherited Arrhythmia | LQTS | Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations. Heart Rhythm. 2013 10(3):378-82. doi: 10.1016/j.hrthm.2012.11.006. 23174487 | ||
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 | |||
Inherited Arrhythmia | LQTS | Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999 |