TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5640	17143;17144;17145	chr2:178731957;178731956;178731955	chr2:179596684;179596683;179596682
N2AB	5323	16192;16193;16194	chr2:178731957;178731956;178731955	chr2:179596684;179596683;179596682
N2A	4396	13411;13412;13413	chr2:178731957;178731956;178731955	chr2:179596684;179596683;179596682
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-40
• Domain position: 4
• Structural Position: 4
• Q(SASA): 0.4147
• 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/S	rs2080609627	None	None	N	0.075	0.116	0.124217242631	gnomAD-4.0.0	5.50119E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	7.23117E-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	0.075	likely_benign	0.0802	benign	-0.841	Destabilizing	0.008	N	0.145	neutral	N	0.504925141	None	None	I
T/C	0.2785	likely_benign	0.309	benign	-0.43	Destabilizing	0.001	N	0.183	neutral	None	None	None	None	I
T/D	0.283	likely_benign	0.3061	benign	-0.009	Destabilizing	0.22	N	0.289	neutral	None	None	None	None	I
T/E	0.175	likely_benign	0.1909	benign	0.03	Stabilizing	0.055	N	0.302	neutral	None	None	None	None	I
T/F	0.1678	likely_benign	0.1878	benign	-0.777	Destabilizing	0.497	N	0.484	neutral	None	None	None	None	I
T/G	0.1934	likely_benign	0.2057	benign	-1.127	Destabilizing	0.055	N	0.227	neutral	None	None	None	None	I
T/H	0.1733	likely_benign	0.1928	benign	-1.195	Destabilizing	0.667	D	0.372	neutral	None	None	None	None	I
T/I	0.0913	likely_benign	0.104	benign	-0.156	Destabilizing	0.042	N	0.279	neutral	N	0.439988228	None	None	I
T/K	0.1138	likely_benign	0.1275	benign	-0.61	Destabilizing	None	N	0.113	neutral	None	None	None	None	I
T/L	0.0671	likely_benign	0.0705	benign	-0.156	Destabilizing	None	N	0.111	neutral	None	None	None	None	I
T/M	0.074	likely_benign	0.0805	benign	-0.072	Destabilizing	0.497	N	0.317	neutral	None	None	None	None	I
T/N	0.1075	likely_benign	0.1146	benign	-0.63	Destabilizing	0.096	N	0.113	neutral	N	0.505618574	None	None	I
T/P	0.1223	likely_benign	0.1405	benign	-0.352	Destabilizing	0.301	N	0.329	neutral	N	0.455415852	None	None	I
T/Q	0.1318	likely_benign	0.1454	benign	-0.677	Destabilizing	0.22	N	0.329	neutral	None	None	None	None	I
T/R	0.085	likely_benign	0.0967	benign	-0.407	Destabilizing	0.004	N	0.182	neutral	None	None	None	None	I
T/S	0.091	likely_benign	0.0941	benign	-0.952	Destabilizing	None	N	0.075	neutral	N	0.47933605	None	None	I
T/V	0.0905	likely_benign	0.0978	benign	-0.352	Destabilizing	None	N	0.058	neutral	None	None	None	None	I
T/W	0.3942	ambiguous	0.4302	ambiguous	-0.76	Destabilizing	0.958	D	0.372	neutral	None	None	None	None	I
T/Y	0.1882	likely_benign	0.2042	benign	-0.516	Destabilizing	0.667	D	0.491	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.