TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23236	69931;69932;69933	chr2:178576538;178576537;178576536	chr2:179441265;179441264;179441263
N2AB	21595	65008;65009;65010	chr2:178576538;178576537;178576536	chr2:179441265;179441264;179441263
N2A	20668	62227;62228;62229	chr2:178576538;178576537;178576536	chr2:179441265;179441264;179441263
N2B	14171	42736;42737;42738	chr2:178576538;178576537;178576536	chr2:179441265;179441264;179441263
Novex-1	14296	43111;43112;43113	chr2:178576538;178576537;178576536	chr2:179441265;179441264;179441263
Novex-2	14363	43312;43313;43314	chr2:178576538;178576537;178576536	chr2:179441265;179441264;179441263
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: D
• RefSeq wild type transcript codon: GAT
• RefSeq wild type template codon: CTA
• Domain: Fn3-56
• Domain position: 98
• Structural Position: 132
• Q(SASA): 0.7133
• 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
D/G	None	None	0.935	N	0.58	0.214	0.248417906384	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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
D/A	0.4787	ambiguous	0.5132	ambiguous	-0.191	Destabilizing	0.877	D	0.436	neutral	N	0.510336534	None	None	N
D/C	0.9327	likely_pathogenic	0.9286	pathogenic	0.036	Stabilizing	0.999	D	0.749	deleterious	None	None	None	None	N
D/E	0.2956	likely_benign	0.3319	benign	-0.343	Destabilizing	0.087	N	0.319	neutral	N	0.489539974	None	None	N
D/F	0.9061	likely_pathogenic	0.9144	pathogenic	-0.266	Destabilizing	0.971	D	0.678	prob.neutral	None	None	None	None	N
D/G	0.5148	ambiguous	0.5351	ambiguous	-0.348	Destabilizing	0.935	D	0.58	neutral	N	0.46918583	None	None	N
D/H	0.7664	likely_pathogenic	0.7881	pathogenic	0.017	Stabilizing	0.998	D	0.465	neutral	N	0.49459792	None	None	N
D/I	0.7689	likely_pathogenic	0.7983	pathogenic	0.162	Stabilizing	0.943	D	0.694	prob.delet.	None	None	None	None	N
D/K	0.8509	likely_pathogenic	0.8736	pathogenic	0.356	Stabilizing	0.971	D	0.545	neutral	None	None	None	None	N
D/L	0.777	likely_pathogenic	0.796	pathogenic	0.162	Stabilizing	0.618	D	0.478	neutral	None	None	None	None	N
D/M	0.8874	likely_pathogenic	0.9027	pathogenic	0.214	Stabilizing	0.66	D	0.473	neutral	None	None	None	None	N
D/N	0.2664	likely_benign	0.2985	benign	0.142	Stabilizing	0.981	D	0.534	neutral	D	0.522268468	None	None	N
D/P	0.8805	likely_pathogenic	0.8744	pathogenic	0.065	Stabilizing	0.995	D	0.506	neutral	None	None	None	None	N
D/Q	0.7796	likely_pathogenic	0.8089	pathogenic	0.142	Stabilizing	0.971	D	0.551	neutral	None	None	None	None	N
D/R	0.8779	likely_pathogenic	0.8971	pathogenic	0.515	Stabilizing	0.971	D	0.591	neutral	None	None	None	None	N
D/S	0.439	ambiguous	0.4702	ambiguous	0.043	Stabilizing	0.904	D	0.581	neutral	None	None	None	None	N
D/T	0.6493	likely_pathogenic	0.6813	pathogenic	0.16	Stabilizing	0.971	D	0.533	neutral	None	None	None	None	N
D/V	0.528	ambiguous	0.5666	pathogenic	0.065	Stabilizing	0.926	D	0.492	neutral	N	0.501572906	None	None	N
D/W	0.9774	likely_pathogenic	0.9796	pathogenic	-0.187	Destabilizing	0.999	D	0.775	deleterious	None	None	None	None	N
D/Y	0.5728	likely_pathogenic	0.6119	pathogenic	-0.041	Destabilizing	0.981	D	0.627	neutral	N	0.517057041	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.