No paralogue variants have been mapped to residue 858 for SCN5A.
SCN5A | LIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKNYSEL-RDS----D-SG---LLPRW | 879 |
SCN1A | LIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKDC-VCK----I-AS-DCQLPRW | 932 |
SCN2A | LIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-SN-DCELPRW | 923 |
SCN3A | LIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-ND-DCTLPRW | 924 |
SCN4A | LIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-AL-DCNLPRW | 742 |
SCN7A | LMWSLSNSWVALKDLVLLLFTFIFFSAAFG>M<KLFGKNYEEF-VCH----I-DK-DCQLPRW | 669 |
SCN8A | LIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-NQ-DCELPRW | 917 |
SCN9A | LIKIIGNSVGALGNLTLVLAIIVFIFAVVG>M<QLFGKSYKEC-VCK----I-ND-DCTLPRW | 897 |
SCN10A | LIKIIGNSVGALGNLTIILAIIVFVFALVG>K<QLLGENYRNN-RKN----I-SAPHEDWPRW | 830 |
SCN11A | LIKIIGNSVGALGSLTVVLVIVIFIFSVVG>M<QLFGRSFNSQ-KSPKLCNPTGPTVSCLRHW | 749 |
CACNA1A | LVVSLLNSMKSIISLLFLLFLFIVVFALLG>M<QLFGGQFNFD-E------------G-TPPT | 649 |
CACNA1B | LVVSLLNSMKSIISLLFLLFLFIVVFALLG>M<QLFGGQFNFQ-D------------E-TPTT | 645 |
CACNA1C | LVASLLNSVRSIASLLLLLFLFIIIFSLLG>M<QLFGGKFNFD-E------------MQTRRS | 687 |
CACNA1D | LVASLLNSMKSIASLLLLLFLFIIIFSLLG>M<QLFGGKFNFD-E------------TQTKRS | 706 |
CACNA1E | LVVSLMSSMKSIISLLFLLFLFIVVFALLG>M<QLFGGRFNFN-D------------G-TPSA | 638 |
CACNA1F | LVASLLNSMKSIASLLLLLFLFIIIFSLLG>M<QLFGGKFNFD-Q------------THTKRS | 692 |
CACNA1G | QLVVLMKTMDNVATFCMLLMLFIFIFSILG>M<HLFGCKFASER---------DG-DTLPDRK | 904 |
CACNA1H | QLVVLVKTMDNVATFCTLLMLFIFIFSILG>M<HLFGCKFSLKTD--------TG-DTVPDRK | 955 |
CACNA1I | QLVVLMKTMDNVATFCMLLMLFIFIFSILG>M<HIFGCKFSLRTD--------TG-DTVPDRK | 802 |
CACNA1S | LVASLLNSIRSIASLLLLLFLFIVIFALLG>M<QLFGGRYDFE-D------------TEVRRS | 595 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.M858L | c.2572A>C | Other Disease Phenotype | SIFT: Polyphen: | ||
Reports | Other Disease Phenotype | Reduced Penetrance and Variable Expression of SCN5A Mutations and the Importance of Co-inherited Genetic Variants: Case Report and Review of the Literature. Indian Pacing Electrophysiol J. 2014 14(3):133-49. eCollection 2014. 24948852 | |||
p.M858L | c.2572A>T | Putative Benign | SIFT: Polyphen: |