Paralogue Annotation for SCN5A residue 1914

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1914
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1914

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	R1928G	Myoclonic epilepsy of infancy	High	8	18413471, 26990884
SCN2A	R1918H	Epilepsy, idiopathic generalised ?	High	8	11738931

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	YEPITTTLRRKHEEVS----AMVIQRAF-R>R<HLLQRS--LKHA-SFLFRQ---------QA	1932
SCN1A	YQPITTTLKRKQEEVS----AVIIQRAY-R>R<HLLKRT--VKQA-SFTYNK---------NK	1946
SCN2A	YEPITTTLKRKQEEVS----AIIIQRAY-R>R<YLLKQK--VKKV-SSIYKK---------DK	1936
SCN3A	YEPITTTLKRKQEEVS----AAIIQRNF-R>C<YLLKQR--LKNI-SSNYNK---------EA	1931
SCN4A	YEPITTTLKRKHEEVC----AIKIQRAY-R>R<HLLQRS--MKQA-SYMYRH---------SH	1758
SCN7A	CEPITTTLKRKQEAVS----ATIIQRAY-K>N<YRLRRN--DKNT-SDIHMI---------DG	1656
SCN8A	YEPITTTLRRKQEEVS----AVVLQRAY-R>G<HLARRG--FIC-------------------	1917
SCN9A	YEPITTTLKRKQEDVS----ATVIQRAY-R>R<YRLRQN--VKNI-SSIYIK---------DG	1909
SCN10A	YEPIATTLRWKQEDIS----ATVIQKAY-R>S<YVLHRS--MALS-NTPCVP---------RA	1882
SCN11A	YEPIVTTTKRKEEERG----AAIIQKAF-R>K<YMMKVT--KGDQ-G-D--Q-----------	1759
CACNA1A	LDLLVTPHKSTDLTVGKIYAAMMIMEYY-R>Q<SKAKK--LQAMR-E---EQDRTPLMFQRME	1992
CACNA1B	LDLLVPPHKPDEMTVGKVYAALMIFDFY-K>Q<NKTTRDQMQQAPGG---LS----QMGPVSL	1890
CACNA1C	LDQVVPPAGDDEVTVGKFYATFLIQEYF-R>K<FKKRKE--QGLV-GK--PS--------QRN	1647
CACNA1D	LDQVVPPAGDDEVTVGKFYATFLIQDYF-R>K<FKKRKE--QGLV-GK-YPA--------KNT	1656
CACNA1E	LDLLVPMPKASDLTVGKIYAAMMIMDYY-K>Q<SKVKKQ--RQQL-E---EQ-KNAPMFQRME	1903
CACNA1F	LDEVIPPPDEEEVTVGKFYATFLIQDYF-R>K<FRRRKE--KGLL-GN-DAA--------PST	1613
CACNA1G	AFPSAPSLGGSDP-----QIPLAEMEAL-S>L<TSEIVS--EPSC------------------	1996
CACNA1H	FRPVVPASAPHPR-----PLQEVEMETYGA>G<TPLGSV--ASVH-SP-PAE-SCASLQIPLA	1984
CACNA1I	FHHYSSPAGCKKCHHDKQEVQLAETEAF-S>L<NSDRSS--SILL-GD-DLS-LEDPTACPPG	1883
CACNA1S	LDQVIPPIGDDEVTVGKFYATFLIQEHF-R>K<FMKRQE--EYY--GY--RP--------KKD	1551
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1914G	c.5740A>G	Putative Benign			SIFT: Polyphen: