Paralogue Annotation for SCN5A residue 770

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 770
Reference Amino Acid: A - Alanine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 770

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
CACNA1A	G540R	Episodic ataxia	Medium	9	20156848

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	NMTSEFEEMLQVGNLVFTGIFTAEMTFKII>A<LDPYYYFQQGWNIFDSIIVILSLMELGLSR	800
SCN1A	PMTDHFNNVLTVGNLVFTGIFTAEMFLKII>A<MDPYYYFQEGWNIFDGFIVTLSLVELGLAN	851
SCN2A	PMTEQFSSVLSVGNLVFTGIFTAEMFLKII>A<MDPYYYFQEGWNIFDGFIVSLSLMELGLAN	842
SCN3A	PMTEQFSSVLTVGNLVFTGIFTAEMVLKII>A<MDPYYYFQEGWNIFDGIIVSLSLMELGLSN	843
SCN4A	PMTEHFDNVLTVGNLVFTGIFTAEMVLKLI>A<MDPYEYFQQGWNIFDSIIVTLSLVELGLAN	661
SCN7A	PMSKQTNTLLNIGNLVFIGIFTAEMIFKII>A<MHPYGYFQVGWNIFDSMIVFHGLIELCLAN	588
SCN8A	PMTPQFEHVLAVGNLVFTGIFTAEMFLKLI>A<MDPYYYFQEGWNIFDGFIVSLSLMELSLAD	836
SCN9A	PMTEEFKNVLAIGNLVFTGIFAAEMVLKLI>A<MDPYEYFQVGWNIFDSLIVTLSLVELFLAD	816
SCN10A	GMSPTFEAMLQIGNIVFTIFFTAEMVFKII>A<FDPYYYFQKKWNIFDCIIVTVSLLELGVAK	748
SCN11A	KMEASFEKMLNIGNLVFTSIFIAEMCLKII>A<LDPYHYFRRGWNIFDSIVALLSFADVMNCV	660
CACNA1A	NQPEWLSDFLYYAEFIFLGLFMSEMFIKMY>G<LGTRPYFHSSFNCFDCGVIIGSIFEVIWAV	570
CACNA1B	NQPRRLTTTLYFAEFVFLGLFLTEMSLKMY>G<LGPRSYFRSSFNCFDFGVIVGSVFEVVWAA	566
CACNA1C	NQPNWLTEVQDTANKALLALFTAEMLLKMY>S<LGLQAYFVSLFNRFDCFVVCGGILETILVE	607
CACNA1D	NQPDWLTQIQDIANKVLLALFTCEMLVKMY>S<LGLQAYFVSLFNRFDCFVVCGGITETILVE	626
CACNA1E	NQPQWLTHLLYYAEFLFLGLFLLEMSLKMY>G<MGPRLYFHSSFNCFDFGVTVGSIFEVVWAI	559
CACNA1F	GQPVWLTQIQEYANKVLLCLFTVEMLLKLY>G<LGPSAYVSSFFNRFDCFVVCGGILETTLVE	612
CACNA1G	EQPEELTNALEISNIVFTSLFALEMLLKLL>V<YGPFGYIKNPYNIFDGVIVVISVWEIVGQQ	826
CACNA1H	EQPEELTNALEISNIVFTSMFALEMLLKLL>A<CGPLGYIRNPYNIFDGIIVVISVWEIVGQA	876
CACNA1I	EQPEELTNILEICNVVFTSMFALEMILKLA>A<FGLFDYLRNPYNIFDSIIVIISIWEIVGQA	723
CACNA1S	NQPLWLTRLQDIANRVLLSLFTTEMLMKMY>G<LGLRQYFMSIFNRFDCFVVCSGILEILLVE	515
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 770 for SCN5A.