Paralogue Annotation for SCN5A residue 1147

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1147
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1147

No paralogue variants have been mapped to residue 1147 for SCN5A.

SCN5A	-----------------DSCSEGSTADMTN>T<AELLEQIPDLGQDVKDP-------------	1164
SCN1A	-----------------SSSSEGSTVDIGA>P<VE--EQPVVEPEETLEP-------------	1177
SCN2A	-----------------TSSSEGSTVDIGA>P<AEG-EQPEVEPEESLEP-------------	1167
SCN3A	-----------------TSSSEGSTVDVVL>P<REG-EQAETEPEEDLKP-------------	1165
SCN4A	-----------------GNSSVCSTADYKP>P<EEDPEEQAEENPEGEQP-------------	990
SCN7A	-----------------SSSSECSTVDIAI>S<EEE--EM----FYGGER-------------	893
SCN8A	-----------------TSSSEGSTIDIKP>E<VE--EVPVEQPEEYLDP-------------	1157
SCN9A	-----------------SSSSECSTVDNPL>P<GEG-EEAEAEPMNSDEP-------------	1140
SCN10A	-----------------TSSSEGSTVDCLD>P<EEILRKIPELADDLEEP-------------	1111
SCN11A	----------------TSILSECSTIDLQD>G<FG--WLP--EMVPKKQP-------------	1015
CACNA1A	SLIVTNPSGTQTNSAKTARKPDHTTVDIPP>A<CPPPL---------NHTVVQVNKNANPDPL	1195
CACNA1B	EQPEDADNQRNVTRMGSQPPDPNTIVHIPV>M<LTGPL---------GEATVVPSGNVD---L	1102
CACNA1C	------------------------------>-<--RPL---------SEL----------H--	866
CACNA1D	------------------------------>-<--RRI---------SEL----------N--	872
CACNA1E	TSVTVAIPDVDP-------LVDSTVVHISN>K<TDG------------EASPLKEAEI----R	1105
CACNA1F	------------------------------>-<--ELL---------QEV----------V--	837
CACNA1G	------------------------------>-<--RAW---------IRA----------R--	1243
CACNA1H	------------------------------>-<--HKV---------LEP----------Y--	1261
CACNA1I	------------------------------>-<--RKM---------IDV----------Y--	1137
CACNA1S	------------------------------>-<--RPL---------AEL----------Q--	765
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See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1147N	c.3440C>A	Putative Benign			SIFT: Polyphen:
p.T1147I	c.3440C>T	Putative Benign			SIFT: Polyphen:
p.Thr1147Ala	c.3439A>G	Unknown			SIFT: Polyphen: