TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	24971	75136;75137;75138	chr2:178571221;178571220;178571219	chr2:179435948;179435947;179435946
N2AB	23330	70213;70214;70215	chr2:178571221;178571220;178571219	chr2:179435948;179435947;179435946
N2A	22403	67432;67433;67434	chr2:178571221;178571220;178571219	chr2:179435948;179435947;179435946
N2B	15906	47941;47942;47943	chr2:178571221;178571220;178571219	chr2:179435948;179435947;179435946
Novex-1	16031	48316;48317;48318	chr2:178571221;178571220;178571219	chr2:179435948;179435947;179435946
Novex-2	16098	48517;48518;48519	chr2:178571221;178571220;178571219	chr2:179435948;179435947;179435946
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Fn3-69
• Domain position: 64
• Structural Position: 94
• Q(SASA): 0.4343
• 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
T/I	None	None	0.669	N	0.466	0.263	0.347879110917	gnomAD-4.0.0	2.0529E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.69869E-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	0.0685	likely_benign	0.0697	benign	-0.795	Destabilizing	0.454	N	0.375	neutral	N	0.515558714	None	None	N
T/C	0.2616	likely_benign	0.2457	benign	-0.437	Destabilizing	0.998	D	0.537	neutral	None	None	None	None	N
T/D	0.2965	likely_benign	0.3345	benign	0.188	Stabilizing	0.016	N	0.275	neutral	None	None	None	None	N
T/E	0.2655	likely_benign	0.3059	benign	0.143	Stabilizing	0.728	D	0.465	neutral	None	None	None	None	N
T/F	0.1791	likely_benign	0.1837	benign	-1.126	Destabilizing	0.974	D	0.606	neutral	None	None	None	None	N
T/G	0.1442	likely_benign	0.1357	benign	-0.979	Destabilizing	0.007	N	0.322	neutral	None	None	None	None	N
T/H	0.2188	likely_benign	0.2244	benign	-1.253	Destabilizing	0.998	D	0.581	neutral	None	None	None	None	N
T/I	0.1148	likely_benign	0.1215	benign	-0.415	Destabilizing	0.669	D	0.466	neutral	N	0.480046199	None	None	N
T/K	0.1973	likely_benign	0.2218	benign	-0.544	Destabilizing	0.842	D	0.517	neutral	None	None	None	None	N
T/L	0.0801	likely_benign	0.0814	benign	-0.415	Destabilizing	0.525	D	0.461	neutral	None	None	None	None	N
T/M	0.0827	likely_benign	0.0827	benign	-0.079	Destabilizing	0.974	D	0.564	neutral	None	None	None	None	N
T/N	0.0986	likely_benign	0.0984	benign	-0.368	Destabilizing	0.669	D	0.431	neutral	N	0.490353625	None	None	N
T/P	0.108	likely_benign	0.1188	benign	-0.512	Destabilizing	0.966	D	0.579	neutral	N	0.473992585	None	None	N
T/Q	0.2088	likely_benign	0.2252	benign	-0.594	Destabilizing	0.974	D	0.582	neutral	None	None	None	None	N
T/R	0.174	likely_benign	0.1961	benign	-0.273	Destabilizing	0.974	D	0.58	neutral	None	None	None	None	N
T/S	0.0813	likely_benign	0.0782	benign	-0.688	Destabilizing	0.625	D	0.402	neutral	N	0.436345782	None	None	N
T/V	0.0871	likely_benign	0.0913	benign	-0.512	Destabilizing	0.029	N	0.147	neutral	None	None	None	None	N
T/W	0.4673	ambiguous	0.474	ambiguous	-1.029	Destabilizing	0.998	D	0.602	neutral	None	None	None	None	N
T/Y	0.2209	likely_benign	0.227	benign	-0.795	Destabilizing	0.991	D	0.611	neutral	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.