Paralogue Annotation for SCN5A residue 776

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 776
Reference Amino Acid: Y - Tyrosine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 776

ParalogueVariantAssociated DiseaseMapping QualityConsensusPubmed
SCN1AY827DDravet syndromeHigh9 26096185

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.



SCN5AEEMLQVGNLVFTGIFTAEMTFKIIALDPYY>Y<FQQGWNIFDSIIVILSLMELGLSRMS----802
SCN1ANNVLTVGNLVFTGIFTAEMFLKIIAMDPYY>Y<FQEGWNIFDGFIVTLSLVELGLANVE----853
SCN2ASSVLSVGNLVFTGIFTAEMFLKIIAMDPYY>Y<FQEGWNIFDGFIVSLSLMELGLANVE----844
SCN3ASSVLTVGNLVFTGIFTAEMVLKIIAMDPYY>Y<FQEGWNIFDGIIVSLSLMELGLSNVE----845
SCN4ADNVLTVGNLVFTGIFTAEMVLKLIAMDPYE>Y<FQQGWNIFDSIIVTLSLVELGLANVQ----663
SCN7ANTLLNIGNLVFIGIFTAEMIFKIIAMHPYG>Y<FQVGWNIFDSMIVFHGLIELCLANVA----590
SCN8AEHVLAVGNLVFTGIFTAEMFLKLIAMDPYY>Y<FQEGWNIFDGFIVSLSLMELSLADVE----838
SCN9AKNVLAIGNLVFTGIFAAEMVLKLIAMDPYE>Y<FQVGWNIFDSLIVTLSLVELFLADVE----818
SCN10AEAMLQIGNIVFTIFFTAEMVFKIIAFDPYY>Y<FQKKWNIFDCIIVTVSLLELGVAKKG----750
SCN11AEKMLNIGNLVFTSIFIAEMCLKIIALDPYH>Y<FRRGWNIFDSIVALLSFADVMNCVLQKR--664
CACNA1ASDFLYYAEFIFLGLFMSEMFIKMYGLGTRP>Y<FHSSFNCFDCGVIIGSIFEVIWAVIKPGTS576
CACNA1BTTTLYFAEFVFLGLFLTEMSLKMYGLGPRS>Y<FRSSFNCFDFGVIVGSVFEVVWAAIKPGSS572
CACNA1CTEVQDTANKALLALFTAEMLLKMYSLGLQA>Y<FVSLFNRFDCFVVCGGILETILVETKIMSP613
CACNA1DTQIQDIANKVLLALFTCEMLVKMYSLGLQA>Y<FVSLFNRFDCFVVCGGITETILVELEIMSP632
CACNA1ETHLLYYAEFLFLGLFLLEMSLKMYGMGPRL>Y<FHSSFNCFDFGVTVGSIFEVVWAIFRPGTS565
CACNA1FTQIQEYANKVLLCLFTVEMLLKLYGLGPSA>Y<VSSFFNRFDCFVVCGGILETTLVEVGAMQP618
CACNA1GTNALEISNIVFTSLFALEMLLKLLVYGPFG>Y<IKNPYNIFDGVIVVISVWEIVGQQGG----828
CACNA1HTNALEISNIVFTSMFALEMLLKLLACGPLG>Y<IRNPYNIFDGIIVVISVWEIVGQADG----878
CACNA1ITNILEICNVVFTSMFALEMILKLAAFGLFD>Y<LRNPYNIFDSIIVIISIWEIVGQADG----725
CACNA1STRLQDIANRVLLSLFTTEMLMKMYGLGLRQ>Y<FMSIFNRFDCFVVCSGILEILLVESGAMTP521
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

There are currently no reported variants at residue 776 for SCN5A.