Paralogue Annotation for SCN5A residue 570

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 570
Reference Amino Acid: T - Threonine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 570

No paralogue variants have been mapped to residue 570 for SCN5A.

SCN5A	DFADDENSTAGESESHHTSLLVPWPL--RR>T<-SA---QGQPSPGTSA----P--GHALHGK	590
SCN1A	DFADDEHSTFEDNESRRDSLFVPRRHGERR>N<-----------SNLSQ----T--SRSSRML	632
SCN2A	DFADDEHSTFEDNDSRRDSLFVPHRHGERR>H<-----------SNVSQ----A--SRASRVL	635
SCN3A	DFADDEHSTFEDSESRRDSLFVPHRHGERR>N<-----------SNVSQ----A--SMSSRMV	635
SCN4A	------------------------------>-<------------------------------
SCN7A	------------------------------>-<------------------------------
SCN8A	EFADDEHSTVEESEGRRDSLFIPIRARERR>S<------SYSGYSGYSQ----G--SRSSRIF	630
SCN9A	EFADDEHSIFGDNESRRGSLFVPHRPQERR>S<-----------SNISQ----A--SRSP---	609
SCN10A	GVTDDG-VFPGDHESHRGSLLLGGGAGQQG>-<-----------PLPRSPLPQP--SNP----	560
SCN11A	------------------------------>-<------------------------------
CACNA1A	------------------------------>-<------------------------------
CACNA1B	------------------------------>-<------------------------------
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	------------------------------>-<------------------------------
CACNA1F	------------------------------>-<------------------------------
CACNA1G	PPGGAESVHSFYHADCHLEPVRCQAPP--->P<RSPSEASG-RTV--GS----G--KVYPTVH	594
CACNA1H	PPD-AESVHSIYHADCHIEGPQERARVAHA>A<ATA-AASL-R-LATGL----GTMN-YPTIL	617
CACNA1I	SPGNDHSGRELCPQHSPLDATPHTLVQPIP>A<------------------------------	544
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T570N	c.1709C>A	Putative Benign			SIFT: Polyphen: