TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5529	16810;16811;16812	chr2:178732476;178732475;178732474	chr2:179597203;179597202;179597201
N2AB	5212	15859;15860;15861	chr2:178732476;178732475;178732474	chr2:179597203;179597202;179597201
N2A	4285	13078;13079;13080	chr2:178732476;178732475;178732474	chr2:179597203;179597202;179597201
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-38
• Domain position: 80
• Structural Position: 164
• Q(SASA): 0.2802
• 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	0.851	0.511	0.695056991498	gnomAD-4.0.0	1.59423E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	2.41896E-04	0	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	0.5661	likely_pathogenic	0.5774	pathogenic	-0.286	Destabilizing	1.0	D	0.749	deleterious	D	0.605479625	None	None	I
G/C	0.8573	likely_pathogenic	0.8856	pathogenic	-0.945	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	I
G/D	0.7854	likely_pathogenic	0.8534	pathogenic	-0.548	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	I
G/E	0.8277	likely_pathogenic	0.8807	pathogenic	-0.713	Destabilizing	1.0	D	0.821	deleterious	D	0.545184833	None	None	I
G/F	0.9684	likely_pathogenic	0.9769	pathogenic	-1.034	Destabilizing	1.0	D	0.831	deleterious	None	None	None	None	I
G/H	0.9231	likely_pathogenic	0.9468	pathogenic	-0.451	Destabilizing	1.0	D	0.797	deleterious	None	None	None	None	I
G/I	0.9611	likely_pathogenic	0.9727	pathogenic	-0.486	Destabilizing	1.0	D	0.835	deleterious	None	None	None	None	I
G/K	0.8946	likely_pathogenic	0.928	pathogenic	-0.768	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	I
G/L	0.949	likely_pathogenic	0.963	pathogenic	-0.486	Destabilizing	1.0	D	0.824	deleterious	None	None	None	None	I
G/M	0.9645	likely_pathogenic	0.9755	pathogenic	-0.565	Destabilizing	1.0	D	0.799	deleterious	None	None	None	None	I
G/N	0.8647	likely_pathogenic	0.9118	pathogenic	-0.454	Destabilizing	1.0	D	0.804	deleterious	None	None	None	None	I
G/P	0.9952	likely_pathogenic	0.9962	pathogenic	-0.39	Destabilizing	1.0	D	0.846	deleterious	None	None	None	None	I
G/Q	0.8608	likely_pathogenic	0.8973	pathogenic	-0.735	Destabilizing	1.0	D	0.847	deleterious	None	None	None	None	I
G/R	0.7845	likely_pathogenic	0.8365	pathogenic	-0.321	Destabilizing	1.0	D	0.851	deleterious	D	0.610789052	None	None	I
G/S	0.4114	ambiguous	0.4738	ambiguous	-0.595	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	I
G/T	0.7935	likely_pathogenic	0.8375	pathogenic	-0.691	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
G/V	0.8986	likely_pathogenic	0.9232	pathogenic	-0.39	Destabilizing	1.0	D	0.826	deleterious	D	0.643665351	None	None	I
G/W	0.949	likely_pathogenic	0.9633	pathogenic	-1.16	Destabilizing	1.0	D	0.804	deleterious	None	None	None	None	I
G/Y	0.9445	likely_pathogenic	0.9619	pathogenic	-0.829	Destabilizing	1.0	D	0.829	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.