TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32696	98311;98312;98313	chr2:178540080;178540079;178540078	chr2:179404807;179404806;179404805
N2AB	31055	93388;93389;93390	chr2:178540080;178540079;178540078	chr2:179404807;179404806;179404805
N2A	30128	90607;90608;90609	chr2:178540080;178540079;178540078	chr2:179404807;179404806;179404805
N2B	23631	71116;71117;71118	chr2:178540080;178540079;178540078	chr2:179404807;179404806;179404805
Novex-1	23756	71491;71492;71493	chr2:178540080;178540079;178540078	chr2:179404807;179404806;179404805
Novex-2	23823	71692;71693;71694	chr2:178540080;178540079;178540078	chr2:179404807;179404806;179404805
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Fn3-126
• Domain position: 97
• Structural Position: 131
• Q(SASA): 0.3931
• 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
T/I	None	None	0.875	N	0.456	0.224	0.36453787251	gnomAD-4.0.0	1.62592E-06	None	None	None	None	N	None	0	0	None	0	2.78536E-05	None	0	0	0	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	0.1075	likely_benign	0.1083	benign	-0.793	Destabilizing	0.622	D	0.445	neutral	N	0.448435218	None	None	N
T/C	0.3845	ambiguous	0.3775	ambiguous	-0.525	Destabilizing	0.998	D	0.541	neutral	None	None	None	None	N
T/D	0.4788	ambiguous	0.4695	ambiguous	-0.352	Destabilizing	0.949	D	0.459	neutral	None	None	None	None	N
T/E	0.2738	likely_benign	0.2644	benign	-0.382	Destabilizing	0.725	D	0.425	neutral	None	None	None	None	N
T/F	0.3471	ambiguous	0.3621	ambiguous	-1.02	Destabilizing	0.949	D	0.694	prob.delet.	None	None	None	None	N
T/G	0.3316	likely_benign	0.3297	benign	-1.004	Destabilizing	0.915	D	0.531	neutral	None	None	None	None	N
T/H	0.3269	likely_benign	0.3344	benign	-1.317	Destabilizing	0.993	D	0.678	prob.neutral	None	None	None	None	N
T/I	0.1713	likely_benign	0.1908	benign	-0.332	Destabilizing	0.875	D	0.456	neutral	N	0.445781702	None	None	N
T/K	0.2181	likely_benign	0.2259	benign	-0.699	Destabilizing	0.725	D	0.513	neutral	None	None	None	None	N
T/L	0.1196	likely_benign	0.1257	benign	-0.332	Destabilizing	0.476	N	0.461	neutral	None	None	None	None	N
T/M	0.0951	likely_benign	0.0955	benign	0.074	Stabilizing	0.522	D	0.453	neutral	None	None	None	None	N
T/N	0.1693	likely_benign	0.1727	benign	-0.585	Destabilizing	0.966	D	0.473	neutral	N	0.478411409	None	None	N
T/P	0.5886	likely_pathogenic	0.5839	pathogenic	-0.455	Destabilizing	0.989	D	0.532	neutral	N	0.498306678	None	None	N
T/Q	0.2091	likely_benign	0.2076	benign	-0.869	Destabilizing	0.171	N	0.351	neutral	None	None	None	None	N
T/R	0.1975	likely_benign	0.2097	benign	-0.381	Destabilizing	0.949	D	0.455	neutral	None	None	None	None	N
T/S	0.1439	likely_benign	0.1468	benign	-0.854	Destabilizing	0.799	D	0.46	neutral	N	0.49709317	None	None	N
T/V	0.1309	likely_benign	0.1395	benign	-0.455	Destabilizing	0.725	D	0.428	neutral	None	None	None	None	N
T/W	0.6655	likely_pathogenic	0.668	pathogenic	-0.914	Destabilizing	0.998	D	0.735	deleterious	None	None	None	None	N
T/Y	0.4016	ambiguous	0.3994	ambiguous	-0.682	Destabilizing	0.974	D	0.703	prob.delet.	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.