TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8436	25531;25532;25533	chr2:178717568;178717567;178717566	chr2:179582295;179582294;179582293
N2AB	8119	24580;24581;24582	chr2:178717568;178717567;178717566	chr2:179582295;179582294;179582293
N2A	7192	21799;21800;21801	chr2:178717568;178717567;178717566	chr2:179582295;179582294;179582293
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: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-69
• Domain position: 77
• Structural Position: 161
• Q(SASA): 0.1865
• 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
N/T	None	None	1.0	N	0.707	0.605	0.328486982098	gnomAD-4.0.0	1.20033E-06	None	None	None	None	N	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
N/A	0.9879	likely_pathogenic	0.981	pathogenic	-0.877	Destabilizing	1.0	D	0.759	deleterious	None	None	None	None	N
N/C	0.9593	likely_pathogenic	0.9488	pathogenic	-0.169	Destabilizing	1.0	D	0.707	prob.neutral	None	None	None	None	N
N/D	0.9441	likely_pathogenic	0.9305	pathogenic	-1.107	Destabilizing	0.999	D	0.623	neutral	N	0.517770468	None	None	N
N/E	0.9962	likely_pathogenic	0.995	pathogenic	-1.026	Destabilizing	1.0	D	0.717	prob.delet.	None	None	None	None	N
N/F	0.9971	likely_pathogenic	0.9957	pathogenic	-0.803	Destabilizing	1.0	D	0.753	deleterious	None	None	None	None	N
N/G	0.9508	likely_pathogenic	0.9281	pathogenic	-1.181	Destabilizing	1.0	D	0.562	neutral	None	None	None	None	N
N/H	0.9002	likely_pathogenic	0.8473	pathogenic	-0.998	Destabilizing	1.0	D	0.742	deleterious	N	0.514518465	None	None	N
N/I	0.9793	likely_pathogenic	0.9736	pathogenic	-0.114	Destabilizing	1.0	D	0.735	prob.delet.	D	0.537649149	None	None	N
N/K	0.997	likely_pathogenic	0.9954	pathogenic	-0.253	Destabilizing	1.0	D	0.737	prob.delet.	D	0.536888681	None	None	N
N/L	0.9577	likely_pathogenic	0.945	pathogenic	-0.114	Destabilizing	1.0	D	0.743	deleterious	None	None	None	None	N
N/M	0.9877	likely_pathogenic	0.9835	pathogenic	0.441	Stabilizing	1.0	D	0.743	deleterious	None	None	None	None	N
N/P	0.9929	likely_pathogenic	0.9879	pathogenic	-0.34	Destabilizing	1.0	D	0.738	prob.delet.	None	None	None	None	N
N/Q	0.9951	likely_pathogenic	0.9922	pathogenic	-1.043	Destabilizing	1.0	D	0.738	prob.delet.	None	None	None	None	N
N/R	0.996	likely_pathogenic	0.994	pathogenic	-0.18	Destabilizing	1.0	D	0.748	deleterious	None	None	None	None	N
N/S	0.4778	ambiguous	0.3869	ambiguous	-0.89	Destabilizing	0.999	D	0.588	neutral	N	0.480952847	None	None	N
N/T	0.8795	likely_pathogenic	0.8469	pathogenic	-0.635	Destabilizing	1.0	D	0.707	prob.neutral	N	0.501894712	None	None	N
N/V	0.9803	likely_pathogenic	0.9747	pathogenic	-0.34	Destabilizing	1.0	D	0.741	deleterious	None	None	None	None	N
N/W	0.9995	likely_pathogenic	0.9992	pathogenic	-0.575	Destabilizing	1.0	D	0.701	prob.neutral	None	None	None	None	N
N/Y	0.9819	likely_pathogenic	0.9696	pathogenic	-0.326	Destabilizing	1.0	D	0.752	deleterious	D	0.537649149	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.