TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26607	80044;80045;80046	chr2:178566313;178566312;178566311	chr2:179431040;179431039;179431038
N2AB	24966	75121;75122;75123	chr2:178566313;178566312;178566311	chr2:179431040;179431039;179431038
N2A	24039	72340;72341;72342	chr2:178566313;178566312;178566311	chr2:179431040;179431039;179431038
N2B	17542	52849;52850;52851	chr2:178566313;178566312;178566311	chr2:179431040;179431039;179431038
Novex-1	17667	53224;53225;53226	chr2:178566313;178566312;178566311	chr2:179431040;179431039;179431038
Novex-2	17734	53425;53426;53427	chr2:178566313;178566312;178566311	chr2:179431040;179431039;179431038
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Ig-138
• Domain position: 14
• Structural Position: 24
• Q(SASA): 0.4754
• 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/V	None	None	1.0	D	0.809	0.822	0.855096733437	gnomAD-4.0.0	1.59149E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85878E-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	0.4796	ambiguous	0.3925	ambiguous	-0.206	Destabilizing	1.0	D	0.761	deleterious	D	0.633112553	None	None	I
G/C	0.5763	likely_pathogenic	0.496	ambiguous	-0.803	Destabilizing	1.0	D	0.81	deleterious	D	0.608412019	None	None	I
G/D	0.8684	likely_pathogenic	0.7947	pathogenic	-0.604	Destabilizing	1.0	D	0.845	deleterious	D	0.592030128	None	None	I
G/E	0.8864	likely_pathogenic	0.8111	pathogenic	-0.78	Destabilizing	1.0	D	0.825	deleterious	None	None	None	None	I
G/F	0.9404	likely_pathogenic	0.9069	pathogenic	-1.067	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
G/H	0.8773	likely_pathogenic	0.806	pathogenic	-0.403	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/I	0.9422	likely_pathogenic	0.9023	pathogenic	-0.448	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
G/K	0.9026	likely_pathogenic	0.8237	pathogenic	-0.587	Destabilizing	1.0	D	0.822	deleterious	None	None	None	None	I
G/L	0.8984	likely_pathogenic	0.8489	pathogenic	-0.448	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	I
G/M	0.9046	likely_pathogenic	0.8521	pathogenic	-0.386	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	I
G/N	0.7597	likely_pathogenic	0.678	pathogenic	-0.272	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
G/P	0.992	likely_pathogenic	0.9886	pathogenic	-0.338	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	I
G/Q	0.8111	likely_pathogenic	0.7154	pathogenic	-0.596	Destabilizing	1.0	D	0.838	deleterious	None	None	None	None	I
G/R	0.779	likely_pathogenic	0.6523	pathogenic	-0.138	Destabilizing	1.0	D	0.849	deleterious	D	0.649565883	None	None	I
G/S	0.3231	likely_benign	0.2591	benign	-0.384	Destabilizing	1.0	D	0.804	deleterious	D	0.575333915	None	None	I
G/T	0.681	likely_pathogenic	0.5898	pathogenic	-0.498	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	I
G/V	0.8772	likely_pathogenic	0.8073	pathogenic	-0.338	Destabilizing	1.0	D	0.809	deleterious	D	0.649767687	None	None	I
G/W	0.9054	likely_pathogenic	0.8507	pathogenic	-1.182	Destabilizing	1.0	D	0.816	deleterious	None	None	None	None	I
G/Y	0.9038	likely_pathogenic	0.8542	pathogenic	-0.832	Destabilizing	1.0	D	0.817	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.