TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26069	78430;78431;78432	chr2:178567927;178567926;178567925	chr2:179432654;179432653;179432652
N2AB	24428	73507;73508;73509	chr2:178567927;178567926;178567925	chr2:179432654;179432653;179432652
N2A	23501	70726;70727;70728	chr2:178567927;178567926;178567925	chr2:179432654;179432653;179432652
N2B	17004	51235;51236;51237	chr2:178567927;178567926;178567925	chr2:179432654;179432653;179432652
Novex-1	17129	51610;51611;51612	chr2:178567927;178567926;178567925	chr2:179432654;179432653;179432652
Novex-2	17196	51811;51812;51813	chr2:178567927;178567926;178567925	chr2:179432654;179432653;179432652
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: Fn3-77
• Domain position: 80
• Structural Position: 112
• Q(SASA): 0.0981
• 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/S	rs751057466	-1.126	0.999	N	0.597	0.603	0.332902724076	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	0	1.65837E-04
N/S	rs751057466	-1.126	0.999	N	0.597	0.603	0.332902724076	gnomAD-4.0.0	1.59172E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	2.41313E-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
N/A	0.9991	likely_pathogenic	0.9992	pathogenic	-0.872	Destabilizing	1.0	D	0.792	deleterious	None	None	None	None	N
N/C	0.9912	likely_pathogenic	0.991	pathogenic	-0.637	Destabilizing	1.0	D	0.779	deleterious	None	None	None	None	N
N/D	0.9923	likely_pathogenic	0.9935	pathogenic	-2.155	Highly Destabilizing	0.999	D	0.615	neutral	D	0.559086265	None	None	N
N/E	0.9992	likely_pathogenic	0.9994	pathogenic	-1.975	Destabilizing	0.999	D	0.735	prob.delet.	None	None	None	None	N
N/F	0.9997	likely_pathogenic	0.9998	pathogenic	-0.633	Destabilizing	1.0	D	0.82	deleterious	None	None	None	None	N
N/G	0.9955	likely_pathogenic	0.996	pathogenic	-1.195	Destabilizing	0.999	D	0.577	neutral	None	None	None	None	N
N/H	0.9938	likely_pathogenic	0.9945	pathogenic	-0.875	Destabilizing	1.0	D	0.777	deleterious	D	0.560100223	None	None	N
N/I	0.9976	likely_pathogenic	0.998	pathogenic	-0.038	Destabilizing	1.0	D	0.782	deleterious	D	0.560607202	None	None	N
N/K	0.9994	likely_pathogenic	0.9995	pathogenic	-0.374	Destabilizing	1.0	D	0.758	deleterious	D	0.547983449	None	None	N
N/L	0.9946	likely_pathogenic	0.9953	pathogenic	-0.038	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/M	0.9971	likely_pathogenic	0.9976	pathogenic	0.108	Stabilizing	1.0	D	0.815	deleterious	None	None	None	None	N
N/P	0.9997	likely_pathogenic	0.9997	pathogenic	-0.29	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
N/Q	0.9996	likely_pathogenic	0.9997	pathogenic	-1.128	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
N/R	0.999	likely_pathogenic	0.9993	pathogenic	-0.411	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	N
N/S	0.9701	likely_pathogenic	0.9734	pathogenic	-1.166	Destabilizing	0.999	D	0.597	neutral	N	0.51556992	None	None	N
N/T	0.9866	likely_pathogenic	0.989	pathogenic	-0.835	Destabilizing	0.999	D	0.725	prob.delet.	N	0.507893236	None	None	N
N/V	0.9971	likely_pathogenic	0.9974	pathogenic	-0.29	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
N/W	0.9999	likely_pathogenic	0.9999	pathogenic	-0.623	Destabilizing	1.0	D	0.782	deleterious	None	None	None	None	N
N/Y	0.9962	likely_pathogenic	0.9965	pathogenic	-0.226	Destabilizing	1.0	D	0.799	deleterious	D	0.560353712	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.