Paralogue Annotation for SCN5A residue 77

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 77
Reference Amino Acid: G - Glycine
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 77

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	S74P	Myoclonic epilepsy of infancy	Low	3	17561957

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	E--EAPRPQLDLQASKKLPDLYGNPPQELI>G<EPLEDLDPFYSTQK-TFI-VLNKGKTIFRF	105
SCN1A	E--NGPKPNSDLEAGKNLPFIYGDIPPEMV>S<EPLEDLDPYYINKK-TFI-VLNKGKAIFRF	102
SCN2A	E--NGPKPNSDLEAGKSLPFIYGDIPPEMV>S<VPLEDLDPYYINKK-TFI-VLNKGKAISRF	103
SCN3A	E--NKPKPNSDLEAGKNLPFIYGDIPPEMV>S<EPLEDLDPYYINKK-TFI-VMNKGKAIFRF	102
SCN4A	E--PERKPRSDLEAGKNLPMIYGDPPPEVI>G<IPLEDLDPYYSNKK-TFI-VLNKGKAIFRF	105
SCN7A	E--EDLKPTPDLEVGKKLPFIYGNLSQGMV>S<EPLEDVDPYYYKKKNTFI-VLNKNRTIFRF	92
SCN8A	D--SKPKPNSDLEAGKSLPFIYGDIPQGLV>A<VPLEDFDPYYLTQK-TFV-VLNRGKTLFRF	106
SCN9A	E--EAPKPSSDLEAGKQLPFIYGDIPPGMV>S<EPLEDLDPYYADKK-TFI-VLNKGKTIFRF	100
SCN10A	E--EKPRPQLDLKACNQLPKFYGELPAELI>G<EPLEDLDPFYSTHR-TFM-VLNKGRTISRF	104
SCN11A	V--PQPRPQLDLKASRKLPKLYGDIPRELI>G<KPLEDLDPFYRNHK-TFM-VLNRKRTIYRF	103
CACNA1A	G--GSRQGGQ--------PGA--------->-<-QRMYKQSMAQRARTMAL-YNPIPVRQNCL	72
CACNA1B	G--GPGPGGLQ-------PGQ--------->-<-RVLYKQSIAQRARTMAL-YNPIPVKQNCF	69
CACNA1C	H--IPTPGAALSWQAAIDAARQAKLMGSAG>N<ATISTVSST-QRKRQQYG-KPKKQGSTTAT	98
CACNA1D	SQPNSSKQTVLSWQAAIDAARQAKAAQTMS>T<SAPPPVGSLSQRKRQQYA-KSKKQGNSSNS	100
CACNA1E	G--TPVPA----------SGQ--------->-<-AAAYKQTKAQRARTMAL-YNPIPVRQNCF	63
CACNA1F	WGLCPGP----P-------AV--------E>G<ESSGASGLGTPKRRNQHS-KHKTVAVASAQ	66
CACNA1G	G--AGGRP-----------G---------->-<PGSA-------EKDPG-SADSEAEGLPYPA	55
CACNA1H	G--VSPSE-----------S---------->-<P-AA-------ERGAELG-ADEEQRVPYPA	74
CACNA1I	G--P--RS--P-------PS---------->-<SPPG-------LEEPL-D-G-ADPHVPHPD	53
CACNA1S	------------------------------>-<-------SSPQDEGLRKK-QPKKPVPEILP	25
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 77 for SCN5A.