Paralogue Annotation for SCN5A residue 1809

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1809
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1809

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	M1823T	Generalized epilepsy with febrile seizures plus	Medium	9	24679980

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	TEESTEPLSEDDFDMFYEIWEKFDPEATQF>I<EYSVLSDFADALSEPLR--IAK--PNQI--	1833
SCN1A	TEESAEPLSEDDFEMFYEVWEKFDPDATQF>M<EFEKLSQFAAALEPPLN--LPQ--PNKL--	1847
SCN2A	TEESAEPLSEDDFEMFYEVWEKFDPDATQF>I<EFAKLSDFADALDPPLL--IAK--PNKV--	1837
SCN3A	TEESAEPLSEDDFEMFYEVWEKFDPDATQF>I<EFSKLSDFAAALDPPLL--IAK--PNKV--	1832
SCN4A	TEESSEPLGEDDFEMFYETWEKFDPDATQF>I<AYSRLSDFVDTLQEPLR--IAK--PNKI--	1659
SCN7A	SKKKNKTLSEDDFRKFFQVWKRFDPDRTQY>I<DSSKLSDFAAALDPPLF--MAK--PNKG--	1557
SCN8A	TEESADPLSEDDFETFYEIWEKFDPDATQF>I<EYCKLADFADALEHPLR--VPK--PNTI--	1827
SCN9A	TEESTEPLSEDDFEMFYEVWEKFDPDATQF>I<EFSKLSDFAAALDPPLL--IAK--PNKV--	1810
SCN10A	TEESTEPLSEDDFDMFYETWEKFDPEATQF>I<TFSALSDFADTLSGPLR--IPK--PNRN--	1783
SCN11A	TEESEDPLGEDDFDIFYEVWEKFDPEATQF>I<KYSALSDFADALPEPLR--VAK--PNKY--	1665
CACNA1A	TRDSSI-LGPHHLDEYVRVWAEYDPAACGR>I<HYKDMYSLLRVISPPLG--LGKKCPHRVAC	1875
CACNA1B	TRDSSI-LGPHHLDEFIRVWAEYDPAACGR>I<SYNDMFEMLKHMSPPLG--LGKKCPARVAY	1773
CACNA1C	TRDWSI-LGPHHLDEFKRIWAEYDPEAKGR>I<KHLDVVTLLRRIQPPLG--FGKLCPHRVAC	1540
CACNA1D	TRDWSI-LGPHHLDEFKRIWSEYDPEAKGR>I<KHLDVVTLLRRIQPPLG--FGKLCPHRVAC	1548
CACNA1E	TRDSSI-LGPHHLDEFVRVWAEYDRAACGR>I<HYTEMYEMLTLMSPPLG--LGKRCPSKVAY	1787
CACNA1F	TRDWSI-LGPHHLDEFKRIWSEYDPGAKGR>I<KHLDVVALLRRIQPPLG--FGKLCPHRVAC	1505
CACNA1G	NKEAKE---EAELEAELELEMKT-LSPQPH>S<PLGSPF-LWPGVEGPDS--PDSPKPGAL--	1909
CACNA1H	NKEARE---DAELDAEIELEMAQGPGSARR>V<DADRP---------PLP--QESPG--AR--	1909
CACNA1I	NKEAQE---DAEMDAELELEMAHGLGPGPR>L<PTGSPGAPGR---GPGGAGGGGDT--EG--	1787
CACNA1S	TRDWSI-LGPHHLDEFKAIWAEYDPEAKGR>I<KHLDVVTLLRRIQPPLG--FGKFCPHRVAC	1445
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1809M	c.5427T>G	Putative Benign			SIFT: Polyphen: