TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8104	24535;24536;24537	chr2:178718890;178718889;178718888	chr2:179583617;179583616;179583615
N2AB	7787	23584;23585;23586	chr2:178718890;178718889;178718888	chr2:179583617;179583616;179583615
N2A	6860	20803;20804;20805	chr2:178718890;178718889;178718888	chr2:179583617;179583616;179583615
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-66
• Domain position: 27
• Structural Position: 41
• Q(SASA): 0.7023
• 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	0.782	N	0.553	0.251	0.42538462244	gnomAD-4.0.0	1.59177E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	1.43332E-05	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	0.1491	likely_benign	0.1513	benign	-0.454	Destabilizing	0.174	N	0.452	neutral	N	0.492365054	None	None	I
T/C	0.6702	likely_pathogenic	0.6757	pathogenic	-0.458	Destabilizing	0.973	D	0.597	neutral	None	None	None	None	I
T/D	0.4958	ambiguous	0.4785	ambiguous	0.082	Stabilizing	0.575	D	0.598	neutral	None	None	None	None	I
T/E	0.4498	ambiguous	0.4274	ambiguous	0.064	Stabilizing	0.404	N	0.595	neutral	None	None	None	None	I
T/F	0.3405	ambiguous	0.3194	benign	-0.796	Destabilizing	0.906	D	0.698	prob.neutral	None	None	None	None	I
T/G	0.4177	ambiguous	0.3879	ambiguous	-0.638	Destabilizing	0.404	N	0.632	neutral	None	None	None	None	I
T/H	0.3505	ambiguous	0.341	ambiguous	-0.723	Destabilizing	0.973	D	0.703	prob.neutral	None	None	None	None	I
T/I	0.3358	likely_benign	0.3103	benign	-0.071	Destabilizing	0.782	D	0.553	neutral	N	0.489126278	None	None	I
T/K	0.3079	likely_benign	0.2673	benign	-0.42	Destabilizing	0.404	N	0.597	neutral	None	None	None	None	I
T/L	0.1911	likely_benign	0.1736	benign	-0.071	Destabilizing	0.575	D	0.579	neutral	None	None	None	None	I
T/M	0.129	likely_benign	0.1249	benign	-0.235	Destabilizing	0.991	D	0.585	neutral	None	None	None	None	I
T/N	0.1551	likely_benign	0.1486	benign	-0.363	Destabilizing	0.338	N	0.537	neutral	N	0.493423721	None	None	I
T/P	0.3873	ambiguous	0.367	ambiguous	-0.169	Destabilizing	0.782	D	0.548	neutral	N	0.517523655	None	None	I
T/Q	0.3237	likely_benign	0.295	benign	-0.457	Destabilizing	0.826	D	0.582	neutral	None	None	None	None	I
T/R	0.2612	likely_benign	0.2296	benign	-0.155	Destabilizing	0.826	D	0.572	neutral	None	None	None	None	I
T/S	0.1119	likely_benign	0.1094	benign	-0.577	Destabilizing	0.001	N	0.219	neutral	N	0.444765769	None	None	I
T/V	0.2857	likely_benign	0.2641	benign	-0.169	Destabilizing	0.575	D	0.503	neutral	None	None	None	None	I
T/W	0.7119	likely_pathogenic	0.691	pathogenic	-0.856	Destabilizing	0.991	D	0.759	deleterious	None	None	None	None	I
T/Y	0.3642	ambiguous	0.3656	ambiguous	-0.55	Destabilizing	0.906	D	0.706	prob.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.