Paralogue Annotation for SCN5A residue 1895

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1895
Reference Amino Acid: T - Threonine
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1895

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	T1909I	Myoclonic epilepsy of infancy	High	4	12083760, 17054685
CACNA1C	P1607S	Long QT syndrome	Medium	4	23631430

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	DALKIQMEEKFMA---ANP-SKISYEPITT>T<LRRKHEEVS----AMVIQRAF-RRHLLQRS	1920
SCN1A	DALRIQMEERFMA---SNP-SKVSYQPITT>T<LKRKQEEVS----AVIIQRAY-RRHLLKRT	1934
SCN2A	DALRIQMEERFMA---SNP-SKVSYEPITT>T<LKRKQEEVS----AIIIQRAY-RRYLLKQK	1924
SCN3A	DALRIQMEDRFMA---SNP-SKVSYEPITT>T<LKRKQEEVS----AAIIQRNF-RCYLLKQR	1919
SCN4A	DALKQTMEEKFMA---ANP-SKVSYEPITT>T<LKRKHEEVC----AIKIQRAY-RRHLLQRS	1746
SCN7A	EKVVSEIESGFLL---ANP-FKITCEPITT>T<LKRKQEAVS----ATIIQRAY-KNYRLRRN	1644
SCN8A	DILRQQMEERFVA---SNP-SKVSYEPITT>T<LRRKQEEVS----AVVLQRAY-RGHLARRG	1914
SCN9A	DSLRSQMEERFMS---ANP-SKVSYEPITT>T<LKRKQEDVS----ATVIQRAY-RRYRLRQN	1897
SCN10A	DSLKANMEEKFMA---TNL-SKSSYEPIAT>T<LRWKQEDIS----ATVIQKAY-RSYVLHRS	1870
SCN11A	DSMKAMMEEKFME---ANP-LKKLYEPIVT>T<TKRKEEERG----AAIIQKAF-RKYMMKVT	1752
CACNA1A	QQMDAELRKEMMAIW-PNL-SQKTLDLLVT>P<HKSTDLTVGKIYAAMMIMEYY-RQSKAKK-	1973
CACNA1B	HQCDAELRKEISVVW-ANL-PQKTLDLLVP>P<HKPDEMTVGKVYAALMIFDFY-KQNKTTRD	1873
CACNA1C	EQANEELRAIIKKIW-KRT-SMKLLDQVVP>P<AGDDEVTVGKFYATFLIQEYF-RKFKKRKE	1636
CACNA1D	EQANEELRAVIKKIW-KKT-SMKLLDQVVP>P<AGDDEVTVGKFYATFLIQDYF-RKFKKRKE	1644
CACNA1E	QQLDSELQKETLAIW-PHL-SQKMLDLLVP>M<PKASDLTVGKIYAAMMIMDYY-KQSKVKKQ	1886
CACNA1F	EQANQELRIVIKKIW-KRM-KQKLLDEVIP>P<PDEEEVTVGKFYATFLIQDYF-RKFRRRKE	1601
CACNA1G	IQGSLEWELKLMDEL-AGPGGQPSAFPSAP>S<LGGSDP-----QIPLAEMEAL-SLTSEIVS	1992
CACNA1H	-----SVSRML-SLPNDSYM----FRPVVP>A<SAPHPR-----PLQEVEMETYGAGTPLGSV	1965
CACNA1I	-----EGELTIIDNL-SGSI----FHHYSS>P<AGCKKCHHDKQEVQLAETEAF-SLNSDRSS	1864
CACNA1S	EQANEELRAIIKKIW-KRT-SMKLLDQVIP>P<IGDDEVTVGKFYATFLIQEHF-RKFMKRQE	1541
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1895I	c.5684C>T	Putative Benign			SIFT: Polyphen: