Paralogue Annotation for SCN5A residue 1100

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1100
Reference Amino Acid: A - Alanine
Protein Domain: Interdomain Linker II-III

Paralogue Variants mapped to SCN5A residue 1100

No paralogue variants have been mapped to residue 1100 for SCN5A.

SCN5A	---------GGPEAP-----PDSRTWSQVS>A<TASS------EA---------EASASQADW	1115
SCN1A	------------------------------>-<------------------------------
SCN2A	------------------------------>-<------------------------------
SCN3A	------------------------------>-<------------------------------
SCN4A	------------------------------>-<------------------------------
SCN7A	------------------------------>-<------------------------------
SCN8A	------------------------------>-<------------------------------
SCN9A	------------------------------>-<------------------------------
SCN10A	------------------------------>-<------------------------------
SCN11A	-----------------------------H>Q<ENKK------PT---------SQRVQSVEI	966
CACNA1A	AEDIDNMKNNKLATAESAAPHGSLGHAGLP>Q<SPAKMGNSTDPGPMLAIPAMATNPQNAASR	1123
CACNA1B	-----------------EKE--------AT>E<KEAEIVEADKEKELR-NHQPREPHCDLETS	1033
CACNA1C	--------------------EMPVGPRP-->-<------------------------------	859
CACNA1D	--------------------EVPAGPRP-->-<------------------------------	865
CACNA1E	----------------------------MG>R<VI-------S------QSEPDLSCITAN--	1059
CACNA1F	--------------------EEEGAGGV-->-<------------------------------	830
CACNA1G	--------------------NLSKGERV-->-<------------------------------	1236
CACNA1H	--------------------EDSCCLRL-->-<------------------------------	1254
CACNA1I	--------------------DYTLCFRV-->-<------------------------------	1130
CACNA1S	--------------------EIPLSPRP-->-<------------------------------	758
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1100V	c.3299C>T	Inherited Arrhythmia	LQTS	rs199473192	SIFT: tolerated Polyphen: benign
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
		Inherited Arrhythmia	LQTS	Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
		Inherited Arrhythmia	LQTS	Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594
p.A1100P	c.3298G>C	Putative Benign			SIFT: tolerated Polyphen: benign
p.A1100T	c.3298G>A	Putative Benign			SIFT: tolerated Polyphen: benign