TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31147	93664;93665;93666	chr2:178548187;178548186;178548185	chr2:179412914;179412913;179412912
N2AB	29506	88741;88742;88743	chr2:178548187;178548186;178548185	chr2:179412914;179412913;179412912
N2A	28579	85960;85961;85962	chr2:178548187;178548186;178548185	chr2:179412914;179412913;179412912
N2B	22082	66469;66470;66471	chr2:178548187;178548186;178548185	chr2:179412914;179412913;179412912
Novex-1	22207	66844;66845;66846	chr2:178548187;178548186;178548185	chr2:179412914;179412913;179412912
Novex-2	22274	67045;67046;67047	chr2:178548187;178548186;178548185	chr2:179412914;179412913;179412912
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Fn3-115
• Domain position: 35
• Structural Position: 37
• Q(SASA): 0.1068
• 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
G/V	rs1234293999	0.366	0.83	D	0.856	0.424	0.557090038421	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.88E-06	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
G/A	0.1213	likely_benign	0.1477	benign	-0.671	Destabilizing	0.41	N	0.539	neutral	N	0.484453972	None	None	N
G/C	0.1709	likely_benign	0.2085	benign	-0.707	Destabilizing	0.974	D	0.876	deleterious	N	0.500711803	None	None	N
G/D	0.2715	likely_benign	0.2767	benign	-1.606	Destabilizing	0.709	D	0.725	prob.delet.	N	0.499190866	None	None	N
G/E	0.3335	likely_benign	0.3446	ambiguous	-1.579	Destabilizing	0.013	N	0.603	neutral	None	None	None	None	N
G/F	0.6519	likely_pathogenic	0.7197	pathogenic	-0.822	Destabilizing	0.98	D	0.877	deleterious	None	None	None	None	N
G/H	0.401	ambiguous	0.4077	ambiguous	-1.585	Destabilizing	0.98	D	0.852	deleterious	None	None	None	None	N
G/I	0.5536	ambiguous	0.6107	pathogenic	-0.021	Destabilizing	0.866	D	0.881	deleterious	None	None	None	None	N
G/K	0.6841	likely_pathogenic	0.6798	pathogenic	-1.081	Destabilizing	0.764	D	0.766	deleterious	None	None	None	None	N
G/L	0.5636	ambiguous	0.622	pathogenic	-0.021	Destabilizing	0.866	D	0.86	deleterious	None	None	None	None	N
G/M	0.556	ambiguous	0.6297	pathogenic	-0.014	Destabilizing	0.993	D	0.877	deleterious	None	None	None	None	N
G/N	0.2699	likely_benign	0.2967	benign	-0.911	Destabilizing	0.764	D	0.652	neutral	None	None	None	None	N
G/P	0.9932	likely_pathogenic	0.9929	pathogenic	-0.195	Destabilizing	0.866	D	0.853	deleterious	None	None	None	None	N
G/Q	0.4312	ambiguous	0.4387	ambiguous	-0.974	Destabilizing	0.764	D	0.854	deleterious	None	None	None	None	N
G/R	0.5408	ambiguous	0.5104	ambiguous	-0.975	Destabilizing	0.709	D	0.853	deleterious	N	0.482123341	None	None	N
G/S	0.0741	likely_benign	0.0859	benign	-1.17	Destabilizing	0.004	N	0.399	neutral	D	0.526930501	None	None	N
G/T	0.2205	likely_benign	0.2551	benign	-1.065	Destabilizing	0.764	D	0.764	deleterious	None	None	None	None	N
G/V	0.4088	ambiguous	0.4627	ambiguous	-0.195	Destabilizing	0.83	D	0.856	deleterious	D	0.537298707	None	None	N
G/W	0.5752	likely_pathogenic	0.5635	ambiguous	-1.421	Destabilizing	0.993	D	0.832	deleterious	None	None	None	None	N
G/Y	0.4671	ambiguous	0.516	ambiguous	-0.907	Destabilizing	0.98	D	0.881	deleterious	None	None	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.