Paralogue Annotation for SCN5A residue 1593

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1593
Reference Amino Acid: I - Isoleucine
Protein Domain: TM Domain 4

Paralogue Variants mapped to SCN5A residue 1593

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN2A	I1596S	Neonatal-infantile seizures ?	High	9	17386050

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	NLLFVAIFTGECIVKLAALR-HYYFTNSWN>I<FDFVVVILSIVGTVLSDIIQ----------	1613
SCN1A	NLVFIVLFTGECVLKLISLR-HYYFTIGWN>I<FDFVVVILSIVGMFLAELIE----------	1626
SCN2A	NLVFIVLFTGECVLKLISLR-YYYFTIGWN>I<FDFVVVILSIVGMFLAELIE----------	1616
SCN3A	NLVFIVLFTGEFVLKLVSLR-HYYFTIGWN>I<FDFVVVILSIVGMFLAEMIE----------	1611
SCN4A	NMIFIIIFTGECVLKMLALR-QYYFTVGWN>I<FDFVVVILSIVGLALSDLIQ----------	1438
SCN7A	NSIFVMLYTMECILKLIAFR-CFYFTIAWN>I<FDFMVVIFSITGLCLPMTVG----------	1336
SCN8A	NLVFVIFFTCECVLKMFALR-HYYFTIGWN>I<FDFVVVILSIVGMFLADIIE----------	1607
SCN9A	NVVFIILFTGECVLKLISLR-HYYFTVGWN>I<FDFVVVIISIVGMFLADLIE----------	1589
SCN10A	NQFFVAVFTGECVMKMFALR-QYYFTNGWN>V<FDFIVVVLSIASLIFSAILKS---------	1562
SCN11A	NWVFVVIFTLECLIKIFALR-QYYFTNGWN>L<FDCVVVLLSIVSTMISTLENQ---------	1452
CACNA1A	NIVFTSLFSLECVLKVMAFGILNYFRDAWN>I<FDFVTVLGSITDILVTEFGNN---------	1653
CACNA1B	NIVFTSMFSMECVLKIIAFGVLNYFRDAWN>V<FDFVTVLGSITDILVTEIAET---------	1559
CACNA1C	NMLFTGLFTVEMILKLIAFKPKHYFCDAWN>T<FDALIVVGSIVDIAITEVNPAE----HTQ-	1310
CACNA1D	NMVFTGVFTVEMVLKVIAFKPKGYFSDAWN>T<FDSLIVIGSIIDVALSEADPTE----SENV	1317
CACNA1E	NIAFTMVFSLECVLKVIAFGFLNYFRDTWN>I<FDFITVIGSITEIILTDSKLV---------	1565
CACNA1F	NMVFTGLFTIEMVLKIIAFKPKHYFTDAWN>T<FDALIVVGSIVDIAVTEVNNGG----HLG-	1281
CACNA1G	NYIFTVIFVLESVFKLVAFGFRRFFQDRWN>Q<LDLAIVLLSIMGITLEEIEVN---------	1698
CACNA1H	NYVFTIVFVFEAALKLVAFGFRRFFKDRWN>Q<LDLAIVLLSLMGITLEEIEMS---------	1704
CACNA1I	NYMFTTVFVLEAVLKLVAFGLRRFFKDRWN>Q<LDLAIVLLSVMGITLEEIEIN---------	1574
CACNA1S	NVAFTIIFTLEMILKLMAFKARGYFGDPWN>V<FDFLIVIGSIIDVILSEIDTFLASSGGLYC	1214
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1593M	c.4779C>G	Inherited Arrhythmia	LQTS	rs199473276	SIFT: deleterious Polyphen: probably damaging
Reports		Inherited Arrhythmia	LQTS	Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085