Paralogue Annotation for SCN5A residue 1135

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1135
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1135

No paralogue variants have been mapped to residue 1135 for SCN5A.

SCN5A	G----CGETPE------------------D>S<CSEGSTADMTNTAELLEQIPDLGQDVKDP-	1164
SCN1A	------KLNES------------------S>S<SSEGSTVDIGAPVE--EQPVVEPEETLEP-	1177
SCN2A	------KLN-A------------------T>S<SSEGSTVDIGAPAEG-EQPEVEPEESLEP-	1167
SCN3A	------KLN-A------------------T>S<SSEGSTVDVVLPREG-EQAETEPEEDLKP-	1165
SCN4A	------PLY-D------------------G>N<SSVCSTADYKPPEEDPEEQAEENPEGEQP-	990
SCN7A	------KIK-Q------------------S>S<SSECSTVDIAISEEE--EM----FYGGER-	893
SCN8A	------KLD-D------------------T>S<SSEGSTIDIKPEVE--EVPVEQPEEYLDP-	1157
SCN9A	------RLN-R------------------S>S<SSECSTVDNPLPGEG-EEAEAEPMNSDEP-	1140
SCN10A	------GVD-D------------------T>S<SSEGSTVDCLDPEEILRKIPELADDLEEP-	1111
SCN11A	IQDPRKKSD-V-----------------TS>I<LSECSTIDLQDGFG--WLP--EMVPKKQP-	1015
CACNA1A	PGPP--KTP-ENSLIVTNPSGTQTNSAKTA>R<KPDHTTVDIPPACPPPL---------NHTV	1183
CACNA1B	PSTC--LQK-VEEQPEDADNQRNVTRMGSQ>P<PDPNTIVHIPVMLTGPL---------GEAT	1093
CACNA1C	------------------------------>-<--------------RPL---------SEL-	865
CACNA1D	------------------------------>-<--------------RRI---------SEL-	871
CACNA1E	-TDK--ATT-ESTSVTVAIPDVDP------>-<LVDSTVVHISNKTDG------------EAS	1097
CACNA1F	------------------------------>-<--------------ELL---------QEV-	836
CACNA1G	------------------------------>-<--------------RAW---------IRA-	1242
CACNA1H	------------------------------>-<--------------HKV---------LEP-	1260
CACNA1I	------------------------------>-<--------------RKM---------IDV-	1136
CACNA1S	------------------------------>-<--------------RPL---------AEL-	764
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See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1135I	c.3404G>T	Inherited Arrhythmia			SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Genetic analysis, in silico prediction, and family segregation in long QT syndrome. Eur J Hum Genet. 2015 23(1):79-85. doi: 10.1038/ejhg.2014.54. 24667783