TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32183	96772;96773;96774	chr2:178543426;178543425;178543424	chr2:179408153;179408152;179408151
N2AB	30542	91849;91850;91851	chr2:178543426;178543425;178543424	chr2:179408153;179408152;179408151
N2A	29615	89068;89069;89070	chr2:178543426;178543425;178543424	chr2:179408153;179408152;179408151
N2B	23118	69577;69578;69579	chr2:178543426;178543425;178543424	chr2:179408153;179408152;179408151
Novex-1	23243	69952;69953;69954	chr2:178543426;178543425;178543424	chr2:179408153;179408152;179408151
Novex-2	23310	70153;70154;70155	chr2:178543426;178543425;178543424	chr2:179408153;179408152;179408151
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: Fn3-122
• Domain position: 79
• Structural Position: 112
• Q(SASA): 0.087
• 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	None	None	0.999	N	0.605	0.55	0.335164054921	gnomAD-4.0.0	2.40071E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.62508E-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
N/A	0.9992	likely_pathogenic	0.9993	pathogenic	-1.187	Destabilizing	0.999	D	0.807	deleterious	None	None	None	None	N
N/C	0.9912	likely_pathogenic	0.9936	pathogenic	-0.829	Destabilizing	1.0	D	0.79	deleterious	None	None	None	None	N
N/D	0.9931	likely_pathogenic	0.9895	pathogenic	-2.245	Highly Destabilizing	0.998	D	0.623	neutral	D	0.542605079	None	None	N
N/E	0.9993	likely_pathogenic	0.9993	pathogenic	-2.022	Highly Destabilizing	1.0	D	0.744	deleterious	None	None	None	None	N
N/F	0.9997	likely_pathogenic	0.9998	pathogenic	-0.892	Destabilizing	1.0	D	0.829	deleterious	None	None	None	None	N
N/G	0.9944	likely_pathogenic	0.9956	pathogenic	-1.521	Destabilizing	1.0	D	0.58	neutral	None	None	None	None	N
N/H	0.9949	likely_pathogenic	0.9951	pathogenic	-1.138	Destabilizing	1.0	D	0.779	deleterious	D	0.544379506	None	None	N
N/I	0.9977	likely_pathogenic	0.9979	pathogenic	-0.306	Destabilizing	1.0	D	0.795	deleterious	D	0.544632995	None	None	N
N/K	0.9995	likely_pathogenic	0.9996	pathogenic	-0.415	Destabilizing	1.0	D	0.769	deleterious	D	0.532009242	None	None	N
N/L	0.9948	likely_pathogenic	0.9953	pathogenic	-0.306	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
N/M	0.9971	likely_pathogenic	0.997	pathogenic	-0.221	Destabilizing	1.0	D	0.824	deleterious	None	None	None	None	N
N/P	0.9997	likely_pathogenic	0.9997	pathogenic	-0.576	Destabilizing	1.0	D	0.796	deleterious	None	None	None	None	N
N/Q	0.9996	likely_pathogenic	0.9996	pathogenic	-1.066	Destabilizing	1.0	D	0.786	deleterious	None	None	None	None	N
N/R	0.9993	likely_pathogenic	0.9995	pathogenic	-0.559	Destabilizing	1.0	D	0.798	deleterious	None	None	None	None	N
N/S	0.9708	likely_pathogenic	0.97	pathogenic	-1.321	Destabilizing	0.999	D	0.605	neutral	N	0.51213056	None	None	N
N/T	0.9893	likely_pathogenic	0.9877	pathogenic	-0.943	Destabilizing	0.999	D	0.739	prob.delet.	N	0.49823936	None	None	N
N/V	0.9972	likely_pathogenic	0.9978	pathogenic	-0.576	Destabilizing	1.0	D	0.812	deleterious	None	None	None	None	N
N/W	0.9999	likely_pathogenic	0.9999	pathogenic	-0.928	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	N
N/Y	0.997	likely_pathogenic	0.9976	pathogenic	-0.528	Destabilizing	1.0	D	0.811	deleterious	D	0.544379506	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.