Paralogue Annotation for SCN5A residue 130

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 130
Reference Amino Acid: H - Histidine
Protein Domain: TM Domain 1

Paralogue Variants mapped to SCN5A residue 130

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN1A	H127D	Dravet syndrome B ?	High	9	21248271
SCN1A	H127L	Dravet syndrome	High	9	26096185
SCN1A	H127Y	Epilepsy with febrile seizures plus	High	9	27465585

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	KTIFRFSATNALYVLSPFHPIRRAAVKILV>H<SLFNMLIMCTILTNCVFMAQH------D-P	153
SCN1A	KAIFRFSATSALYILTPFNPLRKIAIKILV>H<SLFSMLIMCTILTNCVFMTMS------N-P	150
SCN2A	KAISRFSATPALYILTPFNPIRKLAIKILV>H<SLFNMLIMCTILTNCVFMTMS------N-P	151
SCN3A	KAIFRFSATSALYILTPLNPVRKIAIKILV>H<SLFSMLIMCTILTNCVFMTLS------N-P	150
SCN4A	KAIFRFSATPALYLLSPFSVVRRGAIKVLI>H<ALFSMFIMITILTNCVFMTMS------D-P	153
SCN7A	RTIFRFNAASILCTLSPFNCIRRTTIKVLV>H<PFFQLFILISVLIDCVFMSLT------N-L	140
SCN8A	KTLFRFSATPALYILSPFNLIRRIAIKILI>H<SVFSMIIMCTILTNCVFMTFS------N-P	154
SCN9A	KTIFRFNATPALYMLSPFSPLRRISIKILV>H<SLFSMLIMCTILTNCIFMTMN------N-P	148
SCN10A	RTISRFSATRALWLFSPFNLIRRTAIKVSV>H<SWFSLFITVTILVNCVCMTRT------D-L	152
SCN11A	RTIYRFSAKHALFIFGPFNSIRSLAIRVSV>H<SLFSMFIIGTVIINCVFMATGPA-K--NSN	155
CACNA1A	VRQNCLTVNRSLFLFSEDNVVRKYAKKITE>W<PPFEYMILATIIANCIVLALEQHLPDDDKT	127
CACNA1B	VKQNCFTVNRSLFVFSEDNVVRKYAKRITE>W<PPFEYMILATIIANCIVLALEQHLPDGDKT	124
CACNA1C	GSTTATRPPRALLCLTLKNPIRRACISIVE>W<KPFEIIILLTIFANCVALAIYIPFPEDDSN	153
CACNA1D	GNSSNSRPARALFCLSLNNPIRRACISIVE>W<KPFDIFILLAIFANCVALAIYIPFPEDDSN	155
CACNA1E	VRQNCFTVNRSLFIFGEDNIVRKYAKKLID>W<PPFEYMILATIIANCIVLALEQHLPEDDKT	118
CACNA1F	AVASAQRSPRALFCLTLANPLRRSCISIVE>W<KPFDILILLTIFANCVALGVYIPFPEDDSN	121
CACNA1G	GLPYPALAPVVFFYLSQDSRPRSWCLRTVC>N<PWFERISMLVILLNCVTLGMFRPCEDIACD	110
CACNA1H	RVPYPALAATVFFCLGQTTRPRSWCLRLVC>N<PWFEHVSMLVIMLNCVTLGMFRPCEDVECG	129
CACNA1I	HVPHPDLAPIAFFCLRQTTSPRNWCIKMVC>N<PWFECVSMLVILLNCVTLGMYQPCDDMDCL	108
CACNA1S	VPEILPRPPRALFCLTLENPLRKACISIVE>W<KPFETIILLTIFANCVALAVYLPMPEDDNN	80
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

There are currently no reported variants at residue 130 for SCN5A.