TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	25392	76399;76400;76401	chr2:178569958;178569957;178569956	chr2:179434685;179434684;179434683
N2AB	23751	71476;71477;71478	chr2:178569958;178569957;178569956	chr2:179434685;179434684;179434683
N2A	22824	68695;68696;68697	chr2:178569958;178569957;178569956	chr2:179434685;179434684;179434683
N2B	16327	49204;49205;49206	chr2:178569958;178569957;178569956	chr2:179434685;179434684;179434683
Novex-1	16452	49579;49580;49581	chr2:178569958;178569957;178569956	chr2:179434685;179434684;179434683
Novex-2	16519	49780;49781;49782	chr2:178569958;178569957;178569956	chr2:179434685;179434684;179434683
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Fn3-72
• Domain position: 89
• Structural Position: 122
• Q(SASA): 0.6314
• 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
P/H	None	None	0.162	N	0.395	0.182	0.165133752707	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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
P/A	0.053	likely_benign	0.0546	benign	-1.049	Destabilizing	None	N	0.215	neutral	N	0.440516663	None	None	I
P/C	0.2252	likely_benign	0.2351	benign	-0.704	Destabilizing	0.747	D	0.363	neutral	None	None	None	None	I
P/D	0.2226	likely_benign	0.2083	benign	-0.802	Destabilizing	0.018	N	0.395	neutral	None	None	None	None	I
P/E	0.1336	likely_benign	0.1252	benign	-0.903	Destabilizing	None	N	0.286	neutral	None	None	None	None	I
P/F	0.1668	likely_benign	0.1629	benign	-1.159	Destabilizing	0.06	N	0.444	neutral	None	None	None	None	I
P/G	0.1714	likely_benign	0.1702	benign	-1.234	Destabilizing	0.015	N	0.277	neutral	None	None	None	None	I
P/H	0.1159	likely_benign	0.1078	benign	-0.728	Destabilizing	0.162	N	0.395	neutral	N	0.474656786	None	None	I
P/I	0.0949	likely_benign	0.0997	benign	-0.688	Destabilizing	0.018	N	0.511	neutral	None	None	None	None	I
P/K	0.1386	likely_benign	0.128	benign	-0.749	Destabilizing	None	N	0.299	neutral	None	None	None	None	I
P/L	0.0523	likely_benign	0.054	benign	-0.688	Destabilizing	None	N	0.306	neutral	N	0.463470881	None	None	I
P/M	0.1139	likely_benign	0.1209	benign	-0.428	Destabilizing	0.06	N	0.401	neutral	None	None	None	None	I
P/N	0.1503	likely_benign	0.152	benign	-0.434	Destabilizing	0.035	N	0.513	neutral	None	None	None	None	I
P/Q	0.0832	likely_benign	0.0786	benign	-0.751	Destabilizing	0.001	N	0.255	neutral	None	None	None	None	I
P/R	0.1208	likely_benign	0.1077	benign	-0.128	Destabilizing	0.013	N	0.449	neutral	N	0.491676203	None	None	I
P/S	0.0733	likely_benign	0.0709	benign	-0.855	Destabilizing	0.001	N	0.298	neutral	N	0.46577768	None	None	I
P/T	0.0688	likely_benign	0.07	benign	-0.862	Destabilizing	0.006	N	0.341	neutral	N	0.493310998	None	None	I
P/V	0.0761	likely_benign	0.0804	benign	-0.773	Destabilizing	0.007	N	0.285	neutral	None	None	None	None	I
P/W	0.3414	ambiguous	0.3135	benign	-1.199	Destabilizing	0.747	D	0.455	neutral	None	None	None	None	I
P/Y	0.1937	likely_benign	0.1839	benign	-0.924	Destabilizing	0.204	N	0.439	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.