TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5026	15301;15302;15303	chr2:178734848;178734847;178734846	chr2:179599575;179599574;179599573
N2AB	4709	14350;14351;14352	chr2:178734848;178734847;178734846	chr2:179599575;179599574;179599573
N2A	3782	11569;11570;11571	chr2:178734848;178734847;178734846	chr2:179599575;179599574;179599573
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-33
• Domain position: 46
• Structural Position: 102
• Q(SASA): 0.8072
• 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/K	None	None	0.012	N	0.241	0.078	0.0716867268079	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	0.1346	likely_benign	0.114	benign	-0.143	Destabilizing	0.016	N	0.311	neutral	None	None	None	None	N
N/C	0.2992	likely_benign	0.2533	benign	0.096	Stabilizing	0.676	D	0.294	neutral	None	None	None	None	N
N/D	0.0743	likely_benign	0.0702	benign	-0.029	Destabilizing	None	N	0.126	neutral	N	0.412856859	None	None	N
N/E	0.2079	likely_benign	0.1733	benign	-0.102	Destabilizing	None	N	0.138	neutral	None	None	None	None	N
N/F	0.5054	ambiguous	0.4293	ambiguous	-0.783	Destabilizing	0.356	N	0.297	neutral	None	None	None	None	N
N/G	0.1693	likely_benign	0.1474	benign	-0.202	Destabilizing	None	N	0.137	neutral	None	None	None	None	N
N/H	0.1027	likely_benign	0.0921	benign	-0.255	Destabilizing	0.295	N	0.274	neutral	N	0.448886066	None	None	N
N/I	0.2115	likely_benign	0.1737	benign	-0.084	Destabilizing	0.171	N	0.327	neutral	N	0.453338578	None	None	N
N/K	0.1736	likely_benign	0.149	benign	0.074	Stabilizing	0.012	N	0.241	neutral	N	0.44491048	None	None	N
N/L	0.2259	likely_benign	0.1864	benign	-0.084	Destabilizing	0.072	N	0.351	neutral	None	None	None	None	N
N/M	0.3211	likely_benign	0.2718	benign	0.063	Stabilizing	0.864	D	0.279	neutral	None	None	None	None	N
N/P	0.2343	likely_benign	0.1773	benign	-0.083	Destabilizing	0.214	N	0.345	neutral	None	None	None	None	N
N/Q	0.2279	likely_benign	0.1858	benign	-0.303	Destabilizing	0.072	N	0.271	neutral	None	None	None	None	N
N/R	0.2005	likely_benign	0.1772	benign	0.136	Stabilizing	0.072	N	0.265	neutral	None	None	None	None	N
N/S	0.0691	likely_benign	0.0632	benign	-0.068	Destabilizing	None	N	0.165	neutral	N	0.408474126	None	None	N
N/T	0.1228	likely_benign	0.1016	benign	-0.042	Destabilizing	0.029	N	0.243	neutral	N	0.449076524	None	None	N
N/V	0.2032	likely_benign	0.1677	benign	-0.083	Destabilizing	0.072	N	0.345	neutral	None	None	None	None	N
N/W	0.7116	likely_pathogenic	0.6483	pathogenic	-0.929	Destabilizing	0.864	D	0.349	neutral	None	None	None	None	N
N/Y	0.1804	likely_benign	0.1601	benign	-0.608	Destabilizing	0.295	N	0.284	neutral	N	0.452414331	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.