TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6026	18301;18302;18303	chr2:178730324;178730323;178730322	chr2:179595051;179595050;179595049
N2AB	5709	17350;17351;17352	chr2:178730324;178730323;178730322	chr2:179595051;179595050;179595049
N2A	4782	14569;14570;14571	chr2:178730324;178730323;178730322	chr2:179595051;179595050;179595049
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: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-44
• Domain position: 15
• Structural Position: 24
• Q(SASA): 0.6282
• 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	0.145	0.12	0.0297737177859	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	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
N/A	0.1303	likely_benign	0.1213	benign	-0.263	Destabilizing	None	N	0.197	neutral	None	None	None	None	N
N/C	0.2519	likely_benign	0.2219	benign	0.403	Stabilizing	0.245	N	0.493	neutral	None	None	None	None	N
N/D	0.0986	likely_benign	0.0984	benign	0.076	Stabilizing	0.007	N	0.367	neutral	N	0.435010135	None	None	N
N/E	0.2339	likely_benign	0.2289	benign	0.028	Stabilizing	0.009	N	0.349	neutral	None	None	None	None	N
N/F	0.3417	ambiguous	0.342	ambiguous	-0.693	Destabilizing	0.138	N	0.508	neutral	None	None	None	None	N
N/G	0.1285	likely_benign	0.1238	benign	-0.415	Destabilizing	None	N	0.139	neutral	None	None	None	None	N
N/H	0.0913	likely_benign	0.0868	benign	-0.471	Destabilizing	None	N	0.167	neutral	N	0.502467278	None	None	N
N/I	0.2207	likely_benign	0.2056	benign	0.048	Stabilizing	0.033	N	0.521	neutral	N	0.521226397	None	None	N
N/K	0.1754	likely_benign	0.1709	benign	0.142	Stabilizing	0.007	N	0.343	neutral	N	0.468277347	None	None	N
N/L	0.1792	likely_benign	0.1722	benign	0.048	Stabilizing	0.018	N	0.459	neutral	None	None	None	None	N
N/M	0.2591	likely_benign	0.2521	benign	0.383	Stabilizing	0.497	N	0.483	neutral	None	None	None	None	N
N/P	0.527	ambiguous	0.5132	ambiguous	-0.03	Destabilizing	0.044	N	0.476	neutral	None	None	None	None	N
N/Q	0.1955	likely_benign	0.1861	benign	-0.267	Destabilizing	0.044	N	0.336	neutral	None	None	None	None	N
N/R	0.2028	likely_benign	0.1866	benign	0.212	Stabilizing	0.044	N	0.309	neutral	None	None	None	None	N
N/S	0.0681	likely_benign	0.0653	benign	-0.017	Destabilizing	None	N	0.145	neutral	N	0.451577098	None	None	N
N/T	0.114	likely_benign	0.1096	benign	0.067	Stabilizing	None	N	0.152	neutral	N	0.50229392	None	None	N
N/V	0.2029	likely_benign	0.1865	benign	-0.03	Destabilizing	0.009	N	0.456	neutral	None	None	None	None	N
N/W	0.5991	likely_pathogenic	0.5874	pathogenic	-0.714	Destabilizing	0.788	D	0.485	neutral	None	None	None	None	N
N/Y	0.1236	likely_benign	0.125	benign	-0.434	Destabilizing	0.017	N	0.484	neutral	N	0.521226397	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.