TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8146	24661;24662;24663	chr2:178718764;178718763;178718762	chr2:179583491;179583490;179583489
N2AB	7829	23710;23711;23712	chr2:178718764;178718763;178718762	chr2:179583491;179583490;179583489
N2A	6902	20929;20930;20931	chr2:178718764;178718763;178718762	chr2:179583491;179583490;179583489
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-66
• Domain position: 69
• Structural Position: 152
• Q(SASA): 0.1269
• Predicted PPI site: I

Reported SAVs

SNV	RS	DUET	PolyPhen-2	Condel	Rhapsody	REVEL	MVP	Source	MAF	Disease	Zygosity	Site annotation	mCSM PPI	Predicted PPI site	Comments	AFR	AMR	AMS	ASJ	EAS	EUR	FIN	MDE	NFE	SAS	OTH
G/R	None	None	1.0	D	0.829	0.736	0.870428261519	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-06	0	0

Saturation Mutagenesis

SAV	AlphaMissense (IC)	AlphaMissense Class (IC)	AlphaMissense (N2AB)	AlphaMissense Class (N2AB)	mCSM	mCSM class	PolyPhen-2	PolyPhen-2 Class	Rhapsody	Rhapsody Class	Condel	Condel Score	Site annotation	mCSM PPI	Predicted PPI site
G/A	0.2649	likely_benign	0.3801	ambiguous	-0.735	Destabilizing	1.0	D	0.729	prob.delet.	D	0.574933896	None	None	I
G/C	0.6718	likely_pathogenic	0.7986	pathogenic	-0.786	Destabilizing	1.0	D	0.779	deleterious	None	None	None	None	I
G/D	0.6324	likely_pathogenic	0.7437	pathogenic	-1.114	Destabilizing	1.0	D	0.828	deleterious	None	None	None	None	I
G/E	0.6981	likely_pathogenic	0.8324	pathogenic	-1.135	Destabilizing	1.0	D	0.835	deleterious	D	0.649498033	None	None	I
G/F	0.9492	likely_pathogenic	0.975	pathogenic	-1.028	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	I
G/H	0.8971	likely_pathogenic	0.9535	pathogenic	-1.487	Destabilizing	1.0	D	0.739	prob.delet.	None	None	None	None	I
G/I	0.9129	likely_pathogenic	0.9616	pathogenic	-0.207	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/K	0.847	likely_pathogenic	0.9288	pathogenic	-1.193	Destabilizing	1.0	D	0.833	deleterious	None	None	None	None	I
G/L	0.8921	likely_pathogenic	0.9467	pathogenic	-0.207	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	I
G/M	0.898	likely_pathogenic	0.9497	pathogenic	-0.101	Destabilizing	1.0	D	0.772	deleterious	None	None	None	None	I
G/N	0.7732	likely_pathogenic	0.8651	pathogenic	-0.896	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	I
G/P	0.9911	likely_pathogenic	0.9943	pathogenic	-0.34	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	I
G/Q	0.7459	likely_pathogenic	0.8601	pathogenic	-1.003	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
G/R	0.6857	likely_pathogenic	0.83	pathogenic	-0.969	Destabilizing	1.0	D	0.829	deleterious	D	0.649296229	None	None	I
G/S	0.2128	likely_benign	0.3226	benign	-1.203	Destabilizing	1.0	D	0.83	deleterious	None	None	None	None	I
G/T	0.6333	likely_pathogenic	0.7913	pathogenic	-1.13	Destabilizing	1.0	D	0.837	deleterious	None	None	None	None	I
G/V	0.7969	likely_pathogenic	0.8983	pathogenic	-0.34	Destabilizing	1.0	D	0.814	deleterious	D	0.649498033	None	None	I
G/W	0.9021	likely_pathogenic	0.9522	pathogenic	-1.481	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	I
G/Y	0.9306	likely_pathogenic	0.9688	pathogenic	-1.017	Destabilizing	1.0	D	0.784	deleterious	None	None	None	None	I

Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.