Paralogue Annotation for SCN5A residue 1155

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1155
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1155

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN8A	V1148M	Hyperinsulinism	Low	1	23869231

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	---------DSCSEGSTADMTNTAELLEQI>P<DLGQDVKDP------------------EDC	1167
SCN1A	---------SSSSEGSTVDIGAPVE--EQP>V<VEPEETLEP------------------EAC	1180
SCN2A	---------TSSSEGSTVDIGAPAEG-EQP>E<VEPEESLEP------------------EAC	1170
SCN3A	---------TSSSEGSTVDVVLPREG-EQA>E<TEPEEDLKP------------------EAC	1168
SCN4A	---------GNSSVCSTADYKPPEEDPEEQ>A<EENPEGEQP------------------EEC	993
SCN7A	---------SSSSECSTVDIAISEEE--EM>-<---FYGGER------------------SKH	896
SCN8A	---------TSSSEGSTIDIKPEVE--EVP>V<EQPEEYLDP------------------DAC	1160
SCN9A	---------SSSSECSTVDNPLPGEG-EEA>E<AEPMNSDEP------------------EAC	1143
SCN10A	---------TSSSEGSTVDCLDPEEILRKI>P<ELADDLEEP------------------DDC	1114
SCN11A	--------TSILSECSTIDLQDGFG--WLP>-<-EMVPKKQP------------------ERC	1018
CACNA1A	GTQTNSAKTARKPDHTTVDIPPACPPPL-->-<------NHTVVQVNKNANPDPLPKKEEEKK	1203
CACNA1B	QRNVTRMGSQPPDPNTIVHIPVMLTGPL-->-<------GEATVVPSGNVD---LESQAEGKK	1110
CACNA1C	-------------------------RPL-->-<------SEL----------H----------	866
CACNA1D	-------------------------RRI-->-<------SEL----------N----------	872
CACNA1E	DVDP-------LVDSTVVHISNKTDG---->-<-------EASPLKEAEI----REDEEEVEK	1113
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
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P1155S	c.3463C>T	Putative Benign			SIFT: Polyphen: