TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7205	21838;21839;21840	chr2:178723487;178723486;178723485	chr2:179588214;179588213;179588212
N2AB	6888	20887;20888;20889	chr2:178723487;178723486;178723485	chr2:179588214;179588213;179588212
N2A	5961	18106;18107;18108	chr2:178723487;178723486;178723485	chr2:179588214;179588213;179588212
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: GGG
• RefSeq wild type template codon: CCC
• Domain: Ig-56
• Domain position: 69
• Structural Position: 152
• Q(SASA): 0.2246
• 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/E	rs2078790720	None	1.0	D	0.794	0.676	0.7203669	gnomAD-4.0.0	1.59253E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	1.43406E-05	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	0.306	likely_benign	0.3761	ambiguous	-0.548	Destabilizing	1.0	D	0.773	deleterious	D	0.5737731	None	None	I
G/C	0.7176	likely_pathogenic	0.7851	pathogenic	-0.865	Destabilizing	1.0	D	0.747	deleterious	None	None	None	None	I
G/D	0.5633	ambiguous	0.6525	pathogenic	-0.759	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	I
G/E	0.6358	likely_pathogenic	0.7247	pathogenic	-0.762	Destabilizing	1.0	D	0.794	deleterious	D	0.6299962	None	None	I
G/F	0.9513	likely_pathogenic	0.9682	pathogenic	-0.738	Destabilizing	1.0	D	0.747	deleterious	None	None	None	None	I
G/H	0.8822	likely_pathogenic	0.9199	pathogenic	-1.261	Destabilizing	1.0	D	0.717	prob.delet.	None	None	None	None	I
G/I	0.9276	likely_pathogenic	0.9589	pathogenic	0.018	Stabilizing	1.0	D	0.759	deleterious	None	None	None	None	I
G/K	0.8383	likely_pathogenic	0.8922	pathogenic	-1.036	Destabilizing	1.0	D	0.794	deleterious	None	None	None	None	I
G/L	0.8886	likely_pathogenic	0.9253	pathogenic	0.018	Stabilizing	1.0	D	0.753	deleterious	None	None	None	None	I
G/M	0.902	likely_pathogenic	0.9384	pathogenic	-0.119	Destabilizing	1.0	D	0.745	deleterious	None	None	None	None	I
G/N	0.7401	likely_pathogenic	0.8067	pathogenic	-0.816	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	I
G/P	0.991	likely_pathogenic	0.9939	pathogenic	-0.126	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	I
G/Q	0.7145	likely_pathogenic	0.7875	pathogenic	-0.875	Destabilizing	1.0	D	0.788	deleterious	None	None	None	None	I
G/R	0.6466	likely_pathogenic	0.73	pathogenic	-0.903	Destabilizing	1.0	D	0.799	deleterious	D	0.6553325	None	None	I
G/S	0.2213	likely_benign	0.2813	benign	-1.178	Destabilizing	1.0	D	0.842	deleterious	None	None	None	None	I
G/T	0.666	likely_pathogenic	0.7576	pathogenic	-1.075	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
G/V	0.8309	likely_pathogenic	0.8915	pathogenic	-0.126	Destabilizing	1.0	D	0.76	deleterious	D	0.6555343	None	None	I
G/W	0.8929	likely_pathogenic	0.9232	pathogenic	-1.195	Destabilizing	1.0	D	0.755	deleterious	D	0.65573615	None	None	I
G/Y	0.9297	likely_pathogenic	0.9551	pathogenic	-0.698	Destabilizing	1.0	D	0.737	prob.delet.	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.