No paralogue variants have been mapped to residue 849 for SCN5A.
SCN5A | AKSWPTLNTLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKNYSEL-RDS----D-S | 873 |
SCN1A | AKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKDC-VCK----I-A | 924 |
SCN2A | AKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-S | 915 |
SCN3A | AKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N | 916 |
SCN4A | AKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-A | 734 |
SCN7A | GKYWPTFQILMWSLSNSWVALKDLVLLLFT>F<IFFSAAFGMKLFGKNYEEF-VCH----I-D | 661 |
SCN8A | AKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N | 909 |
SCN9A | AKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N | 889 |
SCN10A | AKSWPTLNTLIKIIGNSVGALGNLTIILAI>I<VFVFALVGKQLLGENYRNN-RKN----I-S | 821 |
SCN11A | AKSWPTLNTLIKIIGNSVGALGSLTVVLVI>V<IFIFSVVGMQLFGRSFNSQ-KSPKLCNPTG | 740 |
CACNA1A | TKYWASLRNLVVSLLNSMKSIISLLFLLFL>F<IVVFALLGMQLFGGQFNFD-E--------- | 644 |
CACNA1B | TKYWSSLRNLVVSLLNSMKSIISLLFLLFL>F<IVVFALLGMQLFGGQFNFQ-D--------- | 640 |
CACNA1C | TRYWNSLSNLVASLLNSVRSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-E--------- | 681 |
CACNA1D | TRHWTSLSNLVASLLNSMKSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-E--------- | 700 |
CACNA1E | TKYWASLRNLVVSLMSSMKSIISLLFLLFL>F<IVVFALLGMQLFGGRFNFN-D--------- | 633 |
CACNA1F | TRHWASLSNLVASLLNSMKSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-Q--------- | 686 |
CACNA1G | VRFLPALQRQLVVLMKTMDNVATFCMLLML>F<IFIFSILGMHLFGCKFASER---------D | 896 |
CACNA1H | VRFLPALRRQLVVLVKTMDNVATFCTLLML>F<IFIFSILGMHLFGCKFSLKTD--------T | 947 |
CACNA1I | VRFMPALRRQLVVLMKTMDNVATFCMLLML>F<IFIFSILGMHIFGCKFSLRTD--------T | 794 |
CACNA1S | TKYWTSLSNLVASLLNSIRSIASLLLLLFL>F<IVIFALLGMQLFGGRYDFE-D--------- | 589 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I849N | c.2546T>A | Other Cardiac Phenotype | SIFT: Polyphen: | ||
Reports | Other Cardiac Phenotype | Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths. Forensic Sci Int. 2014 237:90-9. doi: 10.1016/j.forsciint.2014.01.014. 24631775 |