TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	24961	75106;75107;75108	chr2:178571251;178571250;178571249	chr2:179435978;179435977;179435976
N2AB	23320	70183;70184;70185	chr2:178571251;178571250;178571249	chr2:179435978;179435977;179435976
N2A	22393	67402;67403;67404	chr2:178571251;178571250;178571249	chr2:179435978;179435977;179435976
N2B	15896	47911;47912;47913	chr2:178571251;178571250;178571249	chr2:179435978;179435977;179435976
Novex-1	16021	48286;48287;48288	chr2:178571251;178571250;178571249	chr2:179435978;179435977;179435976
Novex-2	16088	48487;48488;48489	chr2:178571251;178571250;178571249	chr2:179435978;179435977;179435976
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Fn3-69
• Domain position: 54
• Structural Position: 72
• Q(SASA): 0.5049
• Predicted PPI site: I

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
T/I	None	None	0.966	N	0.308	0.233	0.370424759081	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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
T/A	0.0826	likely_benign	0.0815	benign	-0.212	Destabilizing	0.454	N	0.273	neutral	N	0.513899701	None	None	I
T/C	0.2886	likely_benign	0.2969	benign	-0.208	Destabilizing	0.998	D	0.284	neutral	None	None	None	None	I
T/D	0.3987	ambiguous	0.3752	ambiguous	0.014	Stabilizing	0.842	D	0.321	neutral	None	None	None	None	I
T/E	0.3282	likely_benign	0.3247	benign	-0.065	Destabilizing	0.525	D	0.328	neutral	None	None	None	None	I
T/F	0.1609	likely_benign	0.1633	benign	-0.711	Destabilizing	0.991	D	0.355	neutral	None	None	None	None	I
T/G	0.1969	likely_benign	0.1909	benign	-0.33	Destabilizing	0.728	D	0.349	neutral	None	None	None	None	I
T/H	0.24	likely_benign	0.2267	benign	-0.525	Destabilizing	0.974	D	0.334	neutral	None	None	None	None	I
T/I	0.0924	likely_benign	0.0943	benign	-0.02	Destabilizing	0.966	D	0.308	neutral	N	0.484827588	None	None	I
T/K	0.2923	likely_benign	0.275	benign	-0.354	Destabilizing	0.669	D	0.323	neutral	N	0.520577744	None	None	I
T/L	0.0693	likely_benign	0.0721	benign	-0.02	Destabilizing	0.842	D	0.331	neutral	None	None	None	None	I
T/M	0.0668	likely_benign	0.0669	benign	None	Stabilizing	0.991	D	0.265	neutral	None	None	None	None	I
T/N	0.0915	likely_benign	0.0891	benign	-0.079	Destabilizing	0.842	D	0.267	neutral	None	None	None	None	I
T/P	0.3437	ambiguous	0.3258	benign	-0.056	Destabilizing	0.966	D	0.296	neutral	N	0.476243857	None	None	I
T/Q	0.2239	likely_benign	0.2176	benign	-0.302	Destabilizing	0.172	N	0.255	neutral	None	None	None	None	I
T/R	0.2857	likely_benign	0.2649	benign	-0.031	Destabilizing	0.801	D	0.318	neutral	N	0.468633306	None	None	I
T/S	0.0934	likely_benign	0.0935	benign	-0.248	Destabilizing	0.022	N	0.116	neutral	N	0.467071334	None	None	I
T/V	0.0829	likely_benign	0.0855	benign	-0.056	Destabilizing	0.842	D	0.271	neutral	None	None	None	None	I
T/W	0.5395	ambiguous	0.5166	ambiguous	-0.768	Destabilizing	0.998	D	0.417	neutral	None	None	None	None	I
T/Y	0.2006	likely_benign	0.1906	benign	-0.474	Destabilizing	0.991	D	0.361	neutral	None	None	None	None	I

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.