TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	21042	63349;63350;63351	chr2:178588601;178588600;178588599	chr2:179453328;179453327;179453326
N2AB	19401	58426;58427;58428	chr2:178588601;178588600;178588599	chr2:179453328;179453327;179453326
N2A	18474	55645;55646;55647	chr2:178588601;178588600;178588599	chr2:179453328;179453327;179453326
N2B	11977	36154;36155;36156	chr2:178588601;178588600;178588599	chr2:179453328;179453327;179453326
Novex-1	12102	36529;36530;36531	chr2:178588601;178588600;178588599	chr2:179453328;179453327;179453326
Novex-2	12169	36730;36731;36732	chr2:178588601;178588600;178588599	chr2:179453328;179453327;179453326
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: Fn3-40
• Domain position: 80
• Structural Position: 112
• Q(SASA): 0.0871
• 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	0.602	0.553	0.372993862945	gnomAD-4.0.0	3.45328E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	6.1201E-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	0.9974	likely_pathogenic	0.9968	pathogenic	-0.752	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
N/C	0.9756	likely_pathogenic	0.974	pathogenic	-0.638	Destabilizing	1.0	D	0.779	deleterious	None	None	None	None	N
N/D	0.9857	likely_pathogenic	0.9818	pathogenic	-2.302	Highly Destabilizing	0.999	D	0.609	neutral	D	0.55332582	None	None	N
N/E	0.9985	likely_pathogenic	0.9979	pathogenic	-2.119	Highly Destabilizing	0.999	D	0.733	prob.delet.	None	None	None	None	N
N/F	0.9995	likely_pathogenic	0.9994	pathogenic	-0.551	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	N
N/G	0.9917	likely_pathogenic	0.9889	pathogenic	-1.072	Destabilizing	0.999	D	0.581	neutral	None	None	None	None	N
N/H	0.9861	likely_pathogenic	0.9822	pathogenic	-0.757	Destabilizing	1.0	D	0.786	deleterious	D	0.542983473	None	None	N
N/I	0.9962	likely_pathogenic	0.9948	pathogenic	0.07	Stabilizing	1.0	D	0.795	deleterious	D	0.543490452	None	None	N
N/K	0.998	likely_pathogenic	0.9969	pathogenic	-0.338	Destabilizing	1.0	D	0.755	deleterious	D	0.553579309	None	None	N
N/L	0.988	likely_pathogenic	0.9828	pathogenic	0.07	Stabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
N/M	0.991	likely_pathogenic	0.9884	pathogenic	0.209	Stabilizing	1.0	D	0.816	deleterious	None	None	None	None	N
N/P	0.9991	likely_pathogenic	0.9986	pathogenic	-0.177	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
N/Q	0.9988	likely_pathogenic	0.9983	pathogenic	-1.169	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	N
N/R	0.9976	likely_pathogenic	0.9961	pathogenic	-0.367	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	N
N/S	0.9215	likely_pathogenic	0.9121	pathogenic	-1.167	Destabilizing	0.999	D	0.602	neutral	N	0.504213614	None	None	N
N/T	0.9631	likely_pathogenic	0.9505	pathogenic	-0.835	Destabilizing	0.999	D	0.723	prob.delet.	N	0.500157782	None	None	N
N/V	0.9946	likely_pathogenic	0.9928	pathogenic	-0.177	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
N/W	0.9997	likely_pathogenic	0.9995	pathogenic	-0.582	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
N/Y	0.9923	likely_pathogenic	0.9893	pathogenic	-0.154	Destabilizing	1.0	D	0.806	deleterious	D	0.531880657	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.