No paralogue variants have been mapped to residue 867 for SCN5A.
SCN5A | GALGNLTLVLAIIVFIFAVVGMQLFGKNYS>E<L-RDS----D-SG---LLPRWHMMDFFHAF | 888 |
SCN1A | GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>D<C-VCK----I-AS-DCQLPRWHMNDFFHSF | 941 |
SCN2A | GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-SN-DCELPRWHMHDFFHSF | 932 |
SCN3A | GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-ND-DCTLPRWHMNDFFHSF | 933 |
SCN4A | GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-AL-DCNLPRWHMHDFFHSF | 751 |
SCN7A | VALKDLVLLLFTFIFFSAAFGMKLFGKNYE>E<F-VCH----I-DK-DCQLPRWHMHDFFHSF | 678 |
SCN8A | GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-NQ-DCELPRWHMHDFFHSF | 926 |
SCN9A | GALGNLTLVLAIIVFIFAVVGMQLFGKSYK>E<C-VCK----I-ND-DCTLPRWHMNDFFHSF | 906 |
SCN10A | GALGNLTIILAIIVFVFALVGKQLLGENYR>N<N-RKN----I-SAPHEDWPRWHMHDFFHSF | 839 |
SCN11A | GALGSLTVVLVIVIFIFSVVGMQLFGRSFN>S<Q-KSPKLCNPTGPTVSCLRHWHMGDFWHSF | 758 |
CACNA1A | KSIISLLFLLFLFIVVFALLGMQLFGGQFN>F<D-E------------G-TPPTNFDTFPAAI | 658 |
CACNA1B | KSIISLLFLLFLFIVVFALLGMQLFGGQFN>F<Q-D------------E-TPTTNFDTFPAAI | 654 |
CACNA1C | RSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-E------------MQTRRSTFDNFPQSL | 696 |
CACNA1D | KSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-E------------TQTKRSTFDNFPQAL | 715 |
CACNA1E | KSIISLLFLLFLFIVVFALLGMQLFGGRFN>F<N-D------------G-TPSANFDTFPAAI | 647 |
CACNA1F | KSIASLLLLLFLFIIIFSLLGMQLFGGKFN>F<D-Q------------THTKRSTFDTFPQAL | 701 |
CACNA1G | DNVATFCMLLMLFIFIFSILGMHLFGCKFA>S<ER---------DG-DTLPDRKNFDSLLWAI | 913 |
CACNA1H | DNVATFCTLLMLFIFIFSILGMHLFGCKFS>L<KTD--------TG-DTVPDRKNFDSLLWAI | 964 |
CACNA1I | DNVATFCMLLMLFIFIFSILGMHIFGCKFS>L<RTD--------TG-DTVPDRKNFDSLLWAI | 811 |
CACNA1S | RSIASLLLLLFLFIVIFALLGMQLFGGRYD>F<E-D------------TEVRRSNFDNFPQAL | 604 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.E867Q | c.2599G>C | Inherited Arrhythmia | BrS | rs199473167 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Inherited Arrhythmia | BrS | An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283 |