Paralogue Annotation for SCN5A residue 71

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 71
Reference Amino Acid: P - Proline
Protein Domain: N-terminus

Paralogue Variants mapped to SCN5A residue 71

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	I68T	Dravet syndrome B ?	Low	2	21248271

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-GLPEE--EAPRPQLDLQASKKLPDLYGN>P<PQELIGEPLEDLDPFYSTQK-TFI-VLNKG	99
SCN1A	K-KDDDE--NGPKPNSDLEAGKNLPFIYGD>I<PPEMVSEPLEDLDPYYINKK-TFI-VLNKG	96
SCN2A	RKDEDDE--NGPKPNSDLEAGKSLPFIYGD>I<PPEMVSVPLEDLDPYYINKK-TFI-VLNKG	97
SCN3A	Q-DNDDE--NKPKPNSDLEAGKNLPFIYGD>I<PPEMVSEPLEDLDPYYINKK-TFI-VMNKG	96
SCN4A	Q-MEIEE--PERKPRSDLEAGKNLPMIYGD>P<PPEVIGIPLEDLDPYYSNKK-TFI-VLNKG	99
SCN7A	N-EDHEE--EDLKPTPDLEVGKKLPFIYGN>L<SQGMVSEPLEDVDPYYYKKKNTFI-VLNKN	86
SCN8A	R-EDDED--SKPKPNSDLEAGKSLPFIYGD>I<PQGLVAVPLEDFDPYYLTQK-TFV-VLNRG	100
SCN9A	K-KDDDE--EAPKPSSDLEAGKQLPFIYGD>I<PPGMVSEPLEDLDPYYADKK-TFI-VLNKG	94
SCN10A	E-QKDQE--EKPRPQLDLKACNQLPKFYGE>L<PAELIGEPLEDLDPFYSTHR-TFM-VLNKG	98
SCN11A	D-QTGEV--PQPRPQLDLKASRKLPKLYGD>I<PRELIGKPLEDLDPFYRNHK-TFM-VLNRK	97
CACNA1A	-GGRGAG--GSRQGGQ--------PGA--->-<-------QRMYKQSMAQRARTMAL-YNPIP	66
CACNA1B	-GAGGAG--GPGPGGLQ-------PGQ--->-<-------RVLYKQSIAQRARTMAL-YNPIP	63
CACNA1C	----PEH--IPTPGAALSWQAAIDAARQAK>L<MGSAGNATISTVSST-QRKRQQYG-KPKKQ	92
CACNA1D	----PTSQPNSSKQTVLSWQAAIDAARQAK>A<AQTMSTSAPPPVGSLSQRKRQQYA-KSKKQ	94
CACNA1E	-SRNRQG--TPVPA----------SGQ--->-<-------AAAYKQTKAQRARTMAL-YNPIP	57
CACNA1F	----PEWGLCPGP----P-------AV--->-<----EGESSGASGLGTPKRRNQHS-KHKTV	60
CACNA1G	----LSG--AGGRP-----------G---->-<------PGSA-------EKDPG-SADSEAE	49
CACNA1H	----ELG--VSPSE-----------S---->-<------P-AA-------ERGAELG-ADEEQ	68
CACNA1I	----QPG--P--RS--P-------PS---->-<------SPPG-------LEEPL-D-G-ADP	47
CACNA1S	------------------------------>-<-------------SSPQDEGLRKK-QPKKP	19
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 71 for SCN5A.