TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6167	18724;18725;18726	chr2:178729754;178729753;178729752	chr2:179594481;179594480;179594479
N2AB	5850	17773;17774;17775	chr2:178729754;178729753;178729752	chr2:179594481;179594480;179594479
N2A	4923	14992;14993;14994	chr2:178729754;178729753;178729752	chr2:179594481;179594480;179594479
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: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Ig-45
• Domain position: 63
• Structural Position: 143
• Q(SASA): 0.3399
• 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/C	None	None	0.002	N	0.466	0.1	0.345859378078	gnomAD-4.0.0	1.59137E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85851E-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
G/A	0.0808	likely_benign	0.0858	benign	-0.274	Destabilizing	0.027	N	0.393	neutral	N	0.464567825	None	None	N
G/C	0.1371	likely_benign	0.1574	benign	-0.824	Destabilizing	0.002	N	0.466	neutral	N	0.494196068	None	None	N
G/D	0.0714	likely_benign	0.0775	benign	-0.376	Destabilizing	None	N	0.199	neutral	N	0.413464214	None	None	N
G/E	0.0888	likely_benign	0.0964	benign	-0.538	Destabilizing	0.081	N	0.431	neutral	None	None	None	None	N
G/F	0.2698	likely_benign	0.3157	benign	-1.059	Destabilizing	0.555	D	0.461	neutral	None	None	None	None	N
G/H	0.1326	likely_benign	0.1612	benign	-0.583	Destabilizing	0.38	N	0.414	neutral	None	None	None	None	N
G/I	0.1577	likely_benign	0.1852	benign	-0.41	Destabilizing	0.555	D	0.465	neutral	None	None	None	None	N
G/K	0.1394	likely_benign	0.1551	benign	-0.622	Destabilizing	0.081	N	0.429	neutral	None	None	None	None	N
G/L	0.1808	likely_benign	0.2101	benign	-0.41	Destabilizing	0.149	N	0.465	neutral	None	None	None	None	N
G/M	0.2463	likely_benign	0.2692	benign	-0.359	Destabilizing	0.824	D	0.437	neutral	None	None	None	None	N
G/N	0.1049	likely_benign	0.1112	benign	-0.29	Destabilizing	0.001	N	0.167	neutral	None	None	None	None	N
G/P	0.4618	ambiguous	0.5624	ambiguous	-0.332	Destabilizing	0.555	D	0.427	neutral	None	None	None	None	N
G/Q	0.1243	likely_benign	0.1405	benign	-0.583	Destabilizing	0.005	N	0.33	neutral	None	None	None	None	N
G/R	0.0934	likely_benign	0.1109	benign	-0.25	Destabilizing	0.188	N	0.451	neutral	N	0.452542677	None	None	N
G/S	0.0652	likely_benign	0.0718	benign	-0.467	Destabilizing	0.001	N	0.165	neutral	N	0.400881706	None	None	N
G/T	0.0925	likely_benign	0.1029	benign	-0.558	Destabilizing	0.081	N	0.445	neutral	None	None	None	None	N
G/V	0.1201	likely_benign	0.1389	benign	-0.332	Destabilizing	0.117	N	0.493	neutral	N	0.515074003	None	None	N
G/W	0.1977	likely_benign	0.2239	benign	-1.205	Destabilizing	0.935	D	0.479	neutral	None	None	None	None	N
G/Y	0.1719	likely_benign	0.2076	benign	-0.832	Destabilizing	0.791	D	0.461	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.