TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20545	61858;61859;61860	chr2:178590092;178590091;178590090	chr2:179454819;179454818;179454817
N2AB	18904	56935;56936;56937	chr2:178590092;178590091;178590090	chr2:179454819;179454818;179454817
N2A	17977	54154;54155;54156	chr2:178590092;178590091;178590090	chr2:179454819;179454818;179454817
N2B	11480	34663;34664;34665	chr2:178590092;178590091;178590090	chr2:179454819;179454818;179454817
Novex-1	11605	35038;35039;35040	chr2:178590092;178590091;178590090	chr2:179454819;179454818;179454817
Novex-2	11672	35239;35240;35241	chr2:178590092;178590091;178590090	chr2:179454819;179454818;179454817
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: Ig-121
• Domain position: 67
• Structural Position: 152
• Q(SASA): 0.1681
• 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/S	None	None	1.0	D	0.826	0.734	0.601175442443	gnomAD-4.0.0	1.20033E-06	None	None	None	None	I	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	0.8347	likely_pathogenic	0.8637	pathogenic	-0.706	Destabilizing	1.0	D	0.741	deleterious	D	0.564486487	None	None	I
G/C	0.9426	likely_pathogenic	0.9553	pathogenic	-0.565	Destabilizing	1.0	D	0.781	deleterious	D	0.642997423	None	None	I
G/D	0.9788	likely_pathogenic	0.9813	pathogenic	-1.453	Destabilizing	1.0	D	0.823	deleterious	D	0.642593815	None	None	I
G/E	0.9894	likely_pathogenic	0.9911	pathogenic	-1.453	Destabilizing	1.0	D	0.841	deleterious	None	None	None	None	I
G/F	0.9963	likely_pathogenic	0.9966	pathogenic	-0.927	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	I
G/H	0.9958	likely_pathogenic	0.9965	pathogenic	-1.602	Destabilizing	1.0	D	0.741	deleterious	None	None	None	None	I
G/I	0.9961	likely_pathogenic	0.9968	pathogenic	-0.139	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	I
G/K	0.9953	likely_pathogenic	0.9962	pathogenic	-1.282	Destabilizing	1.0	D	0.839	deleterious	None	None	None	None	I
G/L	0.9921	likely_pathogenic	0.9937	pathogenic	-0.139	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
G/M	0.9956	likely_pathogenic	0.9966	pathogenic	0.026	Stabilizing	1.0	D	0.777	deleterious	None	None	None	None	I
G/N	0.9851	likely_pathogenic	0.989	pathogenic	-0.982	Destabilizing	1.0	D	0.834	deleterious	None	None	None	None	I
G/P	0.9997	likely_pathogenic	0.9996	pathogenic	-0.286	Destabilizing	1.0	D	0.825	deleterious	None	None	None	None	I
G/Q	0.9844	likely_pathogenic	0.9876	pathogenic	-1.076	Destabilizing	1.0	D	0.829	deleterious	None	None	None	None	I
G/R	0.9849	likely_pathogenic	0.9873	pathogenic	-1.057	Destabilizing	1.0	D	0.841	deleterious	D	0.642795619	None	None	I
G/S	0.7847	likely_pathogenic	0.8315	pathogenic	-1.214	Destabilizing	1.0	D	0.826	deleterious	D	0.626372649	None	None	I
G/T	0.9719	likely_pathogenic	0.9774	pathogenic	-1.138	Destabilizing	1.0	D	0.842	deleterious	None	None	None	None	I
G/V	0.9899	likely_pathogenic	0.992	pathogenic	-0.286	Destabilizing	1.0	D	0.826	deleterious	D	0.642997423	None	None	I
G/W	0.9958	likely_pathogenic	0.9961	pathogenic	-1.487	Destabilizing	1.0	D	0.784	deleterious	None	None	None	None	I
G/Y	0.9968	likely_pathogenic	0.9972	pathogenic	-1.001	Destabilizing	1.0	D	0.799	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.