TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29825	89698;89699;89700	chr2:178553532;178553531;178553530	chr2:179418259;179418258;179418257
N2AB	28184	84775;84776;84777	chr2:178553532;178553531;178553530	chr2:179418259;179418258;179418257
N2A	27257	81994;81995;81996	chr2:178553532;178553531;178553530	chr2:179418259;179418258;179418257
N2B	20760	62503;62504;62505	chr2:178553532;178553531;178553530	chr2:179418259;179418258;179418257
Novex-1	20885	62878;62879;62880	chr2:178553532;178553531;178553530	chr2:179418259;179418258;179418257
Novex-2	20952	63079;63080;63081	chr2:178553532;178553531;178553530	chr2:179418259;179418258;179418257
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Fn3-105
• Domain position: 92
• Structural Position: 124
• Q(SASA): 0.5367
• 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
N/S	None	None	None	N	0.064	0.122	0.0297737177859	gnomAD-4.0.0	1.59243E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.02572E-05

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
N/A	0.093	likely_benign	0.072	benign	-0.039	Destabilizing	None	N	0.065	neutral	None	None	None	None	N
N/C	0.2204	likely_benign	0.175	benign	0.101	Stabilizing	0.004	N	0.409	neutral	None	None	None	None	N
N/D	0.1264	likely_benign	0.1098	benign	0.015	Stabilizing	None	N	0.14	neutral	N	0.326865871	None	None	N
N/E	0.1755	likely_benign	0.141	benign	-0.048	Destabilizing	None	N	0.097	neutral	None	None	None	None	N
N/F	0.3399	likely_benign	0.2544	benign	-0.665	Destabilizing	None	N	0.157	neutral	None	None	None	None	N
N/G	0.1433	likely_benign	0.128	benign	-0.119	Destabilizing	None	N	0.075	neutral	None	None	None	None	N
N/H	0.1081	likely_benign	0.0956	benign	-0.131	Destabilizing	0.001	N	0.209	neutral	N	0.41592765	None	None	N
N/I	0.13	likely_benign	0.1035	benign	0.071	Stabilizing	None	N	0.108	neutral	N	0.35597527	None	None	N
N/K	0.1306	likely_benign	0.1061	benign	0.047	Stabilizing	None	N	0.05	neutral	N	0.348779938	None	None	N
N/L	0.1122	likely_benign	0.0888	benign	0.071	Stabilizing	None	N	0.098	neutral	None	None	None	None	N
N/M	0.1435	likely_benign	0.1081	benign	0.015	Stabilizing	None	N	0.067	neutral	None	None	None	None	N
N/P	0.1204	likely_benign	0.106	benign	0.056	Stabilizing	None	N	0.205	neutral	None	None	None	None	N
N/Q	0.1625	likely_benign	0.132	benign	-0.209	Destabilizing	None	N	0.257	neutral	None	None	None	None	N
N/R	0.1622	likely_benign	0.1289	benign	0.127	Stabilizing	None	N	0.135	neutral	None	None	None	None	N
N/S	0.0648	likely_benign	0.0623	benign	-0.005	Destabilizing	None	N	0.064	neutral	N	0.239657026	None	None	N
N/T	0.061	likely_benign	0.0532	benign	0.03	Stabilizing	None	N	0.035	neutral	N	0.28622997	None	None	N
N/V	0.128	likely_benign	0.0988	benign	0.056	Stabilizing	None	N	0.087	neutral	None	None	None	None	N
N/W	0.5517	ambiguous	0.4528	ambiguous	-0.837	Destabilizing	0.025	N	0.369	neutral	None	None	None	None	N
N/Y	0.1481	likely_benign	0.1246	benign	-0.503	Destabilizing	None	N	0.065	neutral	N	0.378236054	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.