Paralogue Annotation for SCN5A residue 849

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 849
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 849

No paralogue variants have been mapped to residue 849 for SCN5A.



SCN5AAKSWPTLNTLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKNYSEL-RDS----D-S873
SCN1AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKDC-VCK----I-A924
SCN2AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-S915
SCN3AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N916
SCN4AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-A734
SCN7AGKYWPTFQILMWSLSNSWVALKDLVLLLFT>F<IFFSAAFGMKLFGKNYEEF-VCH----I-D661
SCN8AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N909
SCN9AAKSWPTLNMLIKIIGNSVGALGNLTLVLAI>I<VFIFAVVGMQLFGKSYKEC-VCK----I-N889
SCN10AAKSWPTLNTLIKIIGNSVGALGNLTIILAI>I<VFVFALVGKQLLGENYRNN-RKN----I-S821
SCN11AAKSWPTLNTLIKIIGNSVGALGSLTVVLVI>V<IFIFSVVGMQLFGRSFNSQ-KSPKLCNPTG740
CACNA1ATKYWASLRNLVVSLLNSMKSIISLLFLLFL>F<IVVFALLGMQLFGGQFNFD-E---------644
CACNA1BTKYWSSLRNLVVSLLNSMKSIISLLFLLFL>F<IVVFALLGMQLFGGQFNFQ-D---------640
CACNA1CTRYWNSLSNLVASLLNSVRSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-E---------681
CACNA1DTRHWTSLSNLVASLLNSMKSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-E---------700
CACNA1ETKYWASLRNLVVSLMSSMKSIISLLFLLFL>F<IVVFALLGMQLFGGRFNFN-D---------633
CACNA1FTRHWASLSNLVASLLNSMKSIASLLLLLFL>F<IIIFSLLGMQLFGGKFNFD-Q---------686
CACNA1GVRFLPALQRQLVVLMKTMDNVATFCMLLML>F<IFIFSILGMHLFGCKFASER---------D896
CACNA1HVRFLPALRRQLVVLVKTMDNVATFCTLLML>F<IFIFSILGMHLFGCKFSLKTD--------T947
CACNA1IVRFMPALRRQLVVLMKTMDNVATFCMLLML>F<IFIFSILGMHIFGCKFSLRTD--------T794
CACNA1STKYWTSLSNLVASLLNSIRSIASLLLLLFL>F<IVIFALLGMQLFGGRYDFE-D---------589
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I849Nc.2546T>A Other Cardiac PhenotypeSIFT:
Polyphen:
ReportsOther 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