TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22822	68689;68690;68691	chr2:178578051;178578050;178578049	chr2:179442778;179442777;179442776
N2AB	21181	63766;63767;63768	chr2:178578051;178578050;178578049	chr2:179442778;179442777;179442776
N2A	20254	60985;60986;60987	chr2:178578051;178578050;178578049	chr2:179442778;179442777;179442776
N2B	13757	41494;41495;41496	chr2:178578051;178578050;178578049	chr2:179442778;179442777;179442776
Novex-1	13882	41869;41870;41871	chr2:178578051;178578050;178578049	chr2:179442778;179442777;179442776
Novex-2	13949	42070;42071;42072	chr2:178578051;178578050;178578049	chr2:179442778;179442777;179442776
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: Fn3-53
• Domain position: 80
• Structural Position: 112
• Q(SASA): 0.12
• 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/D	rs1002696442	None	0.999	D	0.641	0.682	0.446613173091	gnomAD-4.0.0	1.59247E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86031E-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	0.9962	likely_pathogenic	0.9945	pathogenic	-0.998	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/C	0.943	likely_pathogenic	0.9239	pathogenic	-0.792	Destabilizing	1.0	D	0.779	deleterious	None	None	None	None	N
N/D	0.9958	likely_pathogenic	0.9954	pathogenic	-2.175	Highly Destabilizing	0.999	D	0.641	neutral	D	0.535879902	None	None	N
N/E	0.9991	likely_pathogenic	0.9987	pathogenic	-2.013	Highly Destabilizing	0.999	D	0.744	deleterious	None	None	None	None	N
N/F	0.9992	likely_pathogenic	0.9989	pathogenic	-0.904	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	N
N/G	0.988	likely_pathogenic	0.9826	pathogenic	-1.295	Destabilizing	0.999	D	0.601	neutral	None	None	None	None	N
N/H	0.978	likely_pathogenic	0.9758	pathogenic	-0.921	Destabilizing	1.0	D	0.791	deleterious	D	0.551871016	None	None	N
N/I	0.9947	likely_pathogenic	0.9943	pathogenic	-0.238	Destabilizing	1.0	D	0.781	deleterious	D	0.563898885	None	None	N
N/K	0.9993	likely_pathogenic	0.9993	pathogenic	-0.346	Destabilizing	1.0	D	0.771	deleterious	D	0.562631437	None	None	N
N/L	0.9758	likely_pathogenic	0.9721	pathogenic	-0.238	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/M	0.9956	likely_pathogenic	0.9951	pathogenic	-0.042	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	N
N/P	0.9966	likely_pathogenic	0.995	pathogenic	-0.466	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
N/Q	0.9986	likely_pathogenic	0.9984	pathogenic	-1.219	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	N
N/R	0.9978	likely_pathogenic	0.9975	pathogenic	-0.263	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	N
N/S	0.7837	likely_pathogenic	0.7662	pathogenic	-1.166	Destabilizing	0.999	D	0.627	neutral	N	0.513101158	None	None	N
N/T	0.955	likely_pathogenic	0.9604	pathogenic	-0.852	Destabilizing	0.999	D	0.737	prob.delet.	N	0.51480577	None	None	N
N/V	0.9924	likely_pathogenic	0.9909	pathogenic	-0.466	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	N
N/W	0.9998	likely_pathogenic	0.9997	pathogenic	-0.824	Destabilizing	1.0	D	0.78	deleterious	None	None	None	None	N
N/Y	0.9952	likely_pathogenic	0.9933	pathogenic	-0.442	Destabilizing	1.0	D	0.793	deleterious	D	0.531551488	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.