Paralogue Annotation for SCN5A residue 797

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 797
Reference Amino Acid: G - Glycine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 797

No paralogue variants have been mapped to residue 797 for SCN5A.



SCN5AKIIALDPYYYFQQGWNIFDSIIVILSLMEL>G<LSRMS-----NLSVLRSFRLLRVFKLAKSW822
SCN1AKIIAMDPYYYFQEGWNIFDGFIVTLSLVEL>G<LANVE-----GLSVLRSFRLLRVFKLAKSW873
SCN2AKIIAMDPYYYFQEGWNIFDGFIVSLSLMEL>G<LANVE-----GLSVLRSFRLLRVFKLAKSW864
SCN3AKIIAMDPYYYFQEGWNIFDGIIVSLSLMEL>G<LSNVE-----GLSVLRSFRLLRVFKLAKSW865
SCN4AKLIAMDPYEYFQQGWNIFDSIIVTLSLVEL>G<LANVQ-----GLSVLRSFRLLRVFKLAKSW683
SCN7AKIIAMHPYGYFQVGWNIFDSMIVFHGLIEL>C<LANVA-----GMALLRLFRMLRIFKLGKYW610
SCN8AKLIAMDPYYYFQEGWNIFDGFIVSLSLMEL>S<LADVE-----GLSVLRSFRLLRVFKLAKSW858
SCN9AKLIAMDPYEYFQVGWNIFDSLIVTLSLVEL>F<LADVE-----GLSVLRSFRLLRVFKLAKSW838
SCN10AKIIAFDPYYYFQKKWNIFDCIIVTVSLLEL>G<VAKKG-----SLSVLRSFRLLRVFKLAKSW770
SCN11AKIIALDPYHYFRRGWNIFDSIVALLSFADV>M<NCVLQKR---SWPFLRSFRVLRVFKLAKSW684
CACNA1AKMYGLGTRPYFHSSFNCFDCGVIIGSIFEV>I<WAVIKPGTSFGISVLRALRLLRIFKVTKYW597
CACNA1BKMYGLGPRSYFRSSFNCFDFGVIVGSVFEV>V<WAAIKPGSSFGISVLRALRLLRIFKVTKYW593
CACNA1CKMYSLGLQAYFVSLFNRFDCFVVCGGILET>I<LVETKIMSPLGISVLRCVRLLRIFKITRYW634
CACNA1DKMYSLGLQAYFVSLFNRFDCFVVCGGITET>I<LVELEIMSPLGISVFRCVRLLRIFKVTRHW653
CACNA1EKMYGMGPRLYFHSSFNCFDFGVTVGSIFEV>V<WAIFRPGTSFGISVLRALRLLRIFKITKYW586
CACNA1FKLYGLGPSAYVSSFFNRFDCFVVCGGILET>T<LVEVGAMQPLGISVLRCVRLLRIFKVTRHW639
CACNA1GKLLVYGPFGYIKNPYNIFDGVIVVISVWEI>V<GQQGG-----GLSVLRTFRLMRVLKLVRFL848
CACNA1HKLLACGPLGYIRNPYNIFDGIIVVISVWEI>V<GQADG-----GLSVLRTFRLLRVLKLVRFL898
CACNA1IKLAAFGLFDYLRNPYNIFDSIIVIISIWEI>V<GQADG-----GLSVLRTFRLLRVLKLVRFM745
CACNA1SKMYGLGLRQYFMSIFNRFDCFVVCSGILEI>L<LVESGAMTPLGISVLRCIRLLRIFKITKYW542
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G797Vc.2390G>T Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661