Paralogue Annotation for SCN5A residue 1471

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1471
Reference Amino Acid: D - Aspartate
Protein Domain: Interdomain Linker III-IV

Paralogue Variants mapped to SCN5A residue 1471

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	D1484G	Dravet syndrome	High	9	18930999

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.

SCN5A	EYNLYMYIYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKLGGQDIFMTEEQKKYY------	1495
SCN1A	EESLYMYLYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKFGGQDIFMTEEQKKYY------	1508
SCN2A	EDNLYMYLYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKFGGQDIFMTEEQKKYY------	1498
SCN3A	EENLYMYLYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKFGGQDIFMTEEQKKYY------	1493
SCN4A	EVNLYMYLYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKLGGKDIFMTEEQKKYY------	1320
SCN7A	EVNIYMYCYFINFIIFGVFLPLSMLITVII>D<NFNKHKIKLGGSNIFITVKQRKQY------	1218
SCN8A	EDNIYMYIYFVIFIIFGSFFTLNLFIGVII>D<NFNQQKKKFGGQDIFMTEEQKKYY------	1489
SCN9A	EYSLYMYIYFVVFIIFGSFFTLNLFIGVII>D<NFNQQKKKLGGQDIFMTEEQKKYY------	1471
SCN10A	EDNVYMYLYFVIFIIFGGFFTLNLFVGVII>D<NFNQQKKKLGGQDIFMTEEQKKYY------	1443
SCN11A	ESNSLGYIYFVVFIIFGSFFTLNLFIGVII>D<NFNQQQKKLGGQDIFMTEEQKKYY------	1333
CACNA1A	GYRMEMSIFYVVYFVVFPFFFVNIFVALII>I<TFQEQGDKM----MEEYSLEKNER------	1532
CACNA1B	GYRMELSIFYVVYFVVFPFFFVNIFVALII>I<TFQEQGDKV----MSECSLEKNER------	1438
CACNA1C	NYRVEISIFFIIYIIIIAFFMMNIFVGFVI>V<TFQEQGEQE----YKNCELDKNQR------	1187
CACNA1D	NHRVEISIFFIIYIIIVAFFMMNIFVGFVI>V<TFQEQGEKE----YKNCELDKNQR------	1193
CACNA1E	SNRMEMSIFYVVYFVVFPFFFVNIFVALII>I<TFQEQGDKM----MEECSLEKNER------	1444
CACNA1F	NYRVEISVFFIVYIIIIAFFMMNIFVGFVI>I<TFRAQGEQE----YQNCELDKNQR------	1158
CACNA1G	NHNPWMLLYFISFLLIVAFFVLNMFVGVVV>E<NFHKCRQHQEEEEARRREEKRLRRLEKKRR	1568
CACNA1H	NHNPWMLLYFISFLLIVSFFVLNMFVGVVV>E<NFHKCRQHQEAEEARRREEK----------	1576
CACNA1I	NHNPWMLLYFISFLLIVSFFVLNMFVGVVV>E<NFHKCRQHQEAEEARRREEK----------	1452
CACNA1S	NNRVEMAIFFIIYIILIAFFMMNIFVGFVI>V<TFQEQGETE----YKNCELDKNQR------	1086
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D1471G	c.4412A>G	Putative Benign		rs201953823	SIFT: deleterious Polyphen: benign