TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8103	24532;24533;24534	chr2:178718893;178718892;178718891	chr2:179583620;179583619;179583618
N2AB	7786	23581;23582;23583	chr2:178718893;178718892;178718891	chr2:179583620;179583619;179583618
N2A	6859	20800;20801;20802	chr2:178718893;178718892;178718891	chr2:179583620;179583619;179583618
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: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-66
• Domain position: 26
• Structural Position: 40
• Q(SASA): 0.32
• 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	0.829	0.663	0.542721108892	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	6.33473E-05	0	None	0	0	None	0	0	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	0.7076	likely_pathogenic	0.77	pathogenic	-0.373	Destabilizing	1.0	D	0.775	deleterious	D	0.571358551	None	None	I
G/C	0.9538	likely_pathogenic	0.9614	pathogenic	-0.662	Destabilizing	1.0	D	0.704	prob.neutral	D	0.64906227	None	None	I
G/D	0.9827	likely_pathogenic	0.9791	pathogenic	-0.598	Destabilizing	1.0	D	0.831	deleterious	D	0.647851444	None	None	I
G/E	0.9846	likely_pathogenic	0.9855	pathogenic	-0.611	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	I
G/F	0.9941	likely_pathogenic	0.994	pathogenic	-0.663	Destabilizing	1.0	D	0.75	deleterious	None	None	None	None	I
G/H	0.9969	likely_pathogenic	0.9967	pathogenic	-0.788	Destabilizing	1.0	D	0.686	prob.neutral	None	None	None	None	I
G/I	0.9843	likely_pathogenic	0.9879	pathogenic	0.022	Stabilizing	1.0	D	0.765	deleterious	None	None	None	None	I
G/K	0.9963	likely_pathogenic	0.996	pathogenic	-0.806	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	I
G/L	0.9891	likely_pathogenic	0.9911	pathogenic	0.022	Stabilizing	1.0	D	0.782	deleterious	None	None	None	None	I
G/M	0.9915	likely_pathogenic	0.993	pathogenic	-0.277	Destabilizing	1.0	D	0.695	prob.neutral	None	None	None	None	I
G/N	0.99	likely_pathogenic	0.9889	pathogenic	-0.618	Destabilizing	1.0	D	0.83	deleterious	None	None	None	None	I
G/P	0.9973	likely_pathogenic	0.998	pathogenic	-0.07	Destabilizing	1.0	D	0.799	deleterious	None	None	None	None	I
G/Q	0.9931	likely_pathogenic	0.9936	pathogenic	-0.68	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
G/R	0.9908	likely_pathogenic	0.9905	pathogenic	-0.62	Destabilizing	1.0	D	0.803	deleterious	D	0.648658661	None	None	I
G/S	0.8181	likely_pathogenic	0.8219	pathogenic	-0.884	Destabilizing	1.0	D	0.829	deleterious	D	0.558205528	None	None	I
G/T	0.9643	likely_pathogenic	0.9689	pathogenic	-0.792	Destabilizing	1.0	D	0.808	deleterious	None	None	None	None	I
G/V	0.9601	likely_pathogenic	0.9703	pathogenic	-0.07	Destabilizing	1.0	D	0.78	deleterious	D	0.623120549	None	None	I
G/W	0.9887	likely_pathogenic	0.987	pathogenic	-1.045	Destabilizing	1.0	D	0.7	prob.neutral	None	None	None	None	I
G/Y	0.9928	likely_pathogenic	0.9925	pathogenic	-0.558	Destabilizing	1.0	D	0.738	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.