No paralogue variants have been mapped to residue 960 for SCN5A.
SCN5A | LFLALLLSSFS-ADNLTAP-DEDREM-NNL>Q<L-ALARIQRGLRFVK--------------- | 974 |
SCN1A | LFLALLLSSFS-ADNLAAT-DDDNEM-NNL>Q<I-AVDRMHKGVAYVK--------------- | 1027 |
SCN2A | LFLALLLSSFS-SDNLAAT-DDDNEM-NNL>Q<I-AVGRMQKGIDFVK--------------- | 1018 |
SCN3A | LFLALLLSSFS-SDNLAAT-DDDNEM-NNL>Q<I-AVGRMQKGIDYVK--------------- | 1019 |
SCN4A | LFLALLLSSFS-ADSLAAS-DEDGEM-NNL>Q<I-AIGRIKLGIGFAK--------------- | 837 |
SCN7A | LFLA-LVSSFS-SCKDVTA-EENNEA-KNL>Q<L-AVARIKKGINYVL--------------- | 763 |
SCN8A | LFLALLLSSFS-ADNLAAT-DDDGEM-NNL>Q<I-SVIRIKKGVAWTK--------------- | 1012 |
SCN9A | LFLALLLSSFS-SDNLTAI-EEDPDA-NNL>Q<I-AVTRIKKGINYVK--------------- | 992 |
SCN10A | LFIALLLNSFS-ADNLTAP-EDDGEV-NNL>Q<V-ALARIQV---FGH--------------- | 922 |
SCN11A | LFIALLLNSFS-NEERNGNLEGEARK-TKV>Q<L-ALDRFRRAFCFVR--------------- | 847 |
CACNA1A | VFLAIAVDNLANAQELTKDEQEEEEA-ANQ>K<L-ALQKAKEVAEVSPLSAANMS-------- | 758 |
CACNA1B | VFLAIAVDNLANAQELTKDEEEMEEA-ANQ>K<L-ALQKAKEVAEVSPMSAANIS-------- | 754 |
CACNA1C | VFLAIAVDNLADAESLTSAQKEEEEE-KER>K<K-LART---AS------------------- | 783 |
CACNA1D | VFLAIAVDNLADAESLNTAQKEEAEE-KER>K<K-IARK---ES------------------- | 802 |
CACNA1E | VFLAIAVDNLANAQELTKDEQEEEEA-FNQ>K<H-ALQKAKEVSPMSAPNMPSIERDRRRRHH | 755 |
CACNA1F | VFLAIAVDNLASGDA-GTAKDKGGEK-SNE>K<DLPQEN---EG------------------- | 788 |
CACNA1G | LLVAILVEGFQ-AEEISKREDASGQL-SCI>Q<L-PVDSQGGDANKS------------ESE- | 1002 |
CACNA1H | LLVAILVEGFQ-AEGDANRSDTDEDKTSVH>F<EEDFHKL----------------------- | 1045 |
CACNA1I | LLVAILVEGFQAEGDAN-RSYSDEDQSSSN>I<E-EFDKLQE--------------------- | 893 |
CACNA1S | VFLAIAVDNLAEAESLTSAQKAKAEE-KKR>R<K-MSKGLPDKS------------------- | 694 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q960K | c.2878C>A | Inherited Arrhythmia | LQTS | rs199473590 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 |