TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9614	29065;29066;29067	chr2:178707727;178707726;178707725	chr2:179572454;179572453;179572452
N2AB	9297	28114;28115;28116	chr2:178707727;178707726;178707725	chr2:179572454;179572453;179572452
N2A	8370	25333;25334;25335	chr2:178707727;178707726;178707725	chr2:179572454;179572453;179572452
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: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-82
• Domain position: 25
• Structural Position: 38
• Q(SASA): 0.5641
• 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
Q/K	None	None	0.003	None	0.107	0.097	0.0920862733494	gnomAD-4.0.0	3.60097E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	3.9375E-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
Q/A	0.193	likely_benign	0.1571	benign	-0.369	Destabilizing	0.002	N	0.144	neutral	None	None	None	None	I
Q/C	0.4549	ambiguous	0.3564	ambiguous	0.218	Stabilizing	None	N	0.225	neutral	None	None	None	None	I
Q/D	0.4307	ambiguous	0.324	benign	-0.16	Destabilizing	0.009	N	0.176	neutral	None	None	None	None	I
Q/E	0.0998	likely_benign	0.0885	benign	-0.155	Destabilizing	None	N	0.037	neutral	None	None	None	None	I
Q/F	0.49	ambiguous	0.4058	ambiguous	-0.361	Destabilizing	0.022	N	0.455	neutral	None	None	None	None	I
Q/G	0.2423	likely_benign	0.1761	benign	-0.624	Destabilizing	0.008	N	0.198	neutral	None	None	None	None	I
Q/H	0.1511	likely_benign	0.1185	benign	-0.546	Destabilizing	None	N	0.071	neutral	None	None	None	None	I
Q/I	0.2863	likely_benign	0.2607	benign	0.236	Stabilizing	0.085	N	0.414	neutral	None	None	None	None	I
Q/K	0.0842	likely_benign	0.079	benign	-0.156	Destabilizing	0.003	N	0.107	neutral	None	None	None	None	I
Q/L	0.1235	likely_benign	0.0996	benign	0.236	Stabilizing	0.003	N	0.215	neutral	None	None	None	None	I
Q/M	0.3106	likely_benign	0.2785	benign	0.594	Stabilizing	0.497	N	0.231	neutral	None	None	None	None	I
Q/N	0.2872	likely_benign	0.2348	benign	-0.469	Destabilizing	0.009	N	0.183	neutral	None	None	None	None	I
Q/P	0.5622	ambiguous	0.4118	ambiguous	0.064	Stabilizing	0.065	N	0.309	neutral	None	None	None	None	I
Q/R	0.0738	likely_benign	0.0637	benign	-0.009	Destabilizing	None	N	0.033	neutral	None	None	None	None	I
Q/S	0.1965	likely_benign	0.1762	benign	-0.488	Destabilizing	None	N	0.036	neutral	None	None	None	None	I
Q/T	0.1609	likely_benign	0.1486	benign	-0.317	Destabilizing	0.009	N	0.211	neutral	None	None	None	None	I
Q/V	0.2045	likely_benign	0.1805	benign	0.064	Stabilizing	0.018	N	0.245	neutral	None	None	None	None	I
Q/W	0.2993	likely_benign	0.1976	benign	-0.299	Destabilizing	None	N	0.205	neutral	None	None	None	None	I
Q/Y	0.3354	likely_benign	0.2531	benign	-0.082	Destabilizing	0.022	N	0.311	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.