Paralogue Annotation for SCN5A residue 1908

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1908
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1908

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	I1922T	Myoclonic epilepsy of infancy	High	8	17347258, 23895530

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	NP-SKISYEPITTTLRRKHEEVS----AMV>I<QRAF-RRHLLQRS--LKHA-SFLFRQ----	1930
SCN1A	NP-SKVSYQPITTTLKRKQEEVS----AVI>I<QRAY-RRHLLKRT--VKQA-SFTYNK----	1944
SCN2A	NP-SKVSYEPITTTLKRKQEEVS----AII>I<QRAY-RRYLLKQK--VKKV-SSIYKK----	1934
SCN3A	NP-SKVSYEPITTTLKRKQEEVS----AAI>I<QRNF-RCYLLKQR--LKNI-SSNYNK----	1929
SCN4A	NP-SKVSYEPITTTLKRKHEEVC----AIK>I<QRAY-RRHLLQRS--MKQA-SYMYRH----	1756
SCN7A	NP-FKITCEPITTTLKRKQEAVS----ATI>I<QRAY-KNYRLRRN--DKNT-SDIHMI----	1654
SCN8A	NP-SKVSYEPITTTLRRKQEEVS----AVV>L<QRAY-RGHLARRG--FIC------------	1917
SCN9A	NP-SKVSYEPITTTLKRKQEDVS----ATV>I<QRAY-RRYRLRQN--VKNI-SSIYIK----	1907
SCN10A	NL-SKSSYEPIATTLRWKQEDIS----ATV>I<QKAY-RSYVLHRS--MALS-NTPCVP----	1880
SCN11A	NP-LKKLYEPIVTTTKRKEEERG----AAI>I<QKAF-RKYMMKVT--KGDQ-G-D--Q----	1759
CACNA1A	NL-SQKTLDLLVTPHKSTDLTVGKIYAAMM>I<MEYY-RQSKAKK--LQAMR-E---EQDRTP	1985
CACNA1B	NL-PQKTLDLLVPPHKPDEMTVGKVYAALM>I<FDFY-KQNKTTRDQMQQAPGG---LS----	1883
CACNA1C	RT-SMKLLDQVVPPAGDDEVTVGKFYATFL>I<QEYF-RKFKKRKE--QGLV-GK--PS----	1644
CACNA1D	KT-SMKLLDQVVPPAGDDEVTVGKFYATFL>I<QDYF-RKFKKRKE--QGLV-GK-YPA----	1653
CACNA1E	HL-SQKMLDLLVPMPKASDLTVGKIYAAMM>I<MDYY-KQSKVKKQ--RQQL-E---EQ-KNA	1896
CACNA1F	RM-KQKLLDEVIPPPDEEEVTVGKFYATFL>I<QDYF-RKFRRRKE--KGLL-GN-DAA----	1610
CACNA1G	GPGGQPSAFPSAPSLGGSDP-----QIPLA>E<MEAL-SLTSEIVS--EPSC-----------	1996
CACNA1H	SYM----FRPVVPASAPHPR-----PLQEV>E<METYGAGTPLGSV--ASVH-SP-PAE-SCA	1977
CACNA1I	GSI----FHHYSSPAGCKKCHHDKQEVQLA>E<TEAF-SLNSDRSS--SILL-GD-DLS-LED	1876
CACNA1S	RT-SMKLLDQVIPPIGDDEVTVGKFYATFL>I<QEHF-RKFMKRQE--EYY--GY--RP----	1548
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1908V	c.5722A>G	Putative Benign			SIFT: Polyphen: