TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17798	53617;53618;53619	chr2:178607210;178607209;178607208	chr2:179471937;179471936;179471935
N2AB	16157	48694;48695;48696	chr2:178607210;178607209;178607208	chr2:179471937;179471936;179471935
N2A	15230	45913;45914;45915	chr2:178607210;178607209;178607208	chr2:179471937;179471936;179471935
N2B	8733	26422;26423;26424	chr2:178607210;178607209;178607208	chr2:179471937;179471936;179471935
Novex-1	8858	26797;26798;26799	chr2:178607210;178607209;178607208	chr2:179471937;179471936;179471935
Novex-2	8925	26998;26999;27000	chr2:178607210;178607209;178607208	chr2:179471937;179471936;179471935
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Fn3-17
• Domain position: 35
• Structural Position: 37
• Q(SASA): 0.1305
• Predicted PPI site: N

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/A	None	None	1.0	N	0.583	0.454	0.412980791724	gnomAD-4.0.0	1.20033E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31251E-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	0.4176	ambiguous	0.3232	benign	-0.766	Destabilizing	1.0	D	0.583	neutral	N	0.478693527	None	None	N
G/C	0.6538	likely_pathogenic	0.5671	pathogenic	-1.113	Destabilizing	1.0	D	0.817	deleterious	N	0.504497238	None	None	N
G/D	0.9079	likely_pathogenic	0.784	pathogenic	-1.705	Destabilizing	1.0	D	0.846	deleterious	N	0.489151233	None	None	N
G/E	0.9346	likely_pathogenic	0.8094	pathogenic	-1.664	Destabilizing	1.0	D	0.909	deleterious	None	None	None	None	N
G/F	0.9821	likely_pathogenic	0.9595	pathogenic	-0.85	Destabilizing	1.0	D	0.871	deleterious	None	None	None	None	N
G/H	0.9139	likely_pathogenic	0.8561	pathogenic	-1.508	Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	N
G/I	0.9788	likely_pathogenic	0.9392	pathogenic	-0.093	Destabilizing	1.0	D	0.877	deleterious	None	None	None	None	N
G/K	0.9718	likely_pathogenic	0.9281	pathogenic	-1.121	Destabilizing	1.0	D	0.909	deleterious	None	None	None	None	N
G/L	0.9733	likely_pathogenic	0.9423	pathogenic	-0.093	Destabilizing	1.0	D	0.903	deleterious	None	None	None	None	N
G/M	0.9699	likely_pathogenic	0.9319	pathogenic	-0.294	Destabilizing	1.0	D	0.826	deleterious	None	None	None	None	N
G/N	0.8386	likely_pathogenic	0.7534	pathogenic	-1.051	Destabilizing	1.0	D	0.724	prob.delet.	None	None	None	None	N
G/P	0.9991	likely_pathogenic	0.9982	pathogenic	-0.275	Destabilizing	1.0	D	0.899	deleterious	None	None	None	None	N
G/Q	0.9142	likely_pathogenic	0.8253	pathogenic	-1.112	Destabilizing	1.0	D	0.891	deleterious	None	None	None	None	N
G/R	0.9324	likely_pathogenic	0.847	pathogenic	-1.022	Destabilizing	1.0	D	0.901	deleterious	N	0.485579608	None	None	N
G/S	0.3354	likely_benign	0.2545	benign	-1.359	Destabilizing	1.0	D	0.665	neutral	N	0.51992717	None	None	N
G/T	0.7836	likely_pathogenic	0.6307	pathogenic	-1.23	Destabilizing	1.0	D	0.909	deleterious	None	None	None	None	N
G/V	0.9404	likely_pathogenic	0.8502	pathogenic	-0.275	Destabilizing	1.0	D	0.907	deleterious	N	0.521334045	None	None	N
G/W	0.9622	likely_pathogenic	0.9223	pathogenic	-1.379	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	N
G/Y	0.9457	likely_pathogenic	0.9017	pathogenic	-0.88	Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	N

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.