TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5347	16264;16265;16266	chr2:178733254;178733253;178733252	chr2:179597981;179597980;179597979
N2AB	5030	15313;15314;15315	chr2:178733254;178733253;178733252	chr2:179597981;179597980;179597979
N2A	4103	12532;12533;12534	chr2:178733254;178733253;178733252	chr2:179597981;179597980;179597979
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-36
• Domain position: 87
• Structural Position: 173
• Q(SASA): 0.229
• 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/A	None	None	0.454	D	0.423	0.146	0.345175991111	gnomAD-4.0.0	8.40225E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.18751E-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
T/A	0.0796	likely_benign	0.0716	benign	-0.956	Destabilizing	0.454	N	0.423	neutral	D	0.523015909	None	None	N
T/C	0.4395	ambiguous	0.4118	ambiguous	-0.622	Destabilizing	0.998	D	0.523	neutral	None	None	None	None	N
T/D	0.3187	likely_benign	0.2781	benign	-0.074	Destabilizing	0.842	D	0.545	neutral	None	None	None	None	N
T/E	0.2689	likely_benign	0.2434	benign	-0.052	Destabilizing	0.842	D	0.517	neutral	None	None	None	None	N
T/F	0.2127	likely_benign	0.1874	benign	-0.963	Destabilizing	0.949	D	0.626	neutral	None	None	None	None	N
T/G	0.271	likely_benign	0.2323	benign	-1.231	Destabilizing	0.728	D	0.567	neutral	None	None	None	None	N
T/H	0.2254	likely_benign	0.2058	benign	-1.461	Destabilizing	0.998	D	0.587	neutral	None	None	None	None	N
T/I	0.1343	likely_benign	0.1193	benign	-0.306	Destabilizing	0.669	D	0.551	neutral	D	0.530173955	None	None	N
T/K	0.1941	likely_benign	0.1683	benign	-0.676	Destabilizing	0.801	D	0.514	neutral	N	0.505102152	None	None	N
T/L	0.1011	likely_benign	0.0914	benign	-0.306	Destabilizing	0.275	N	0.482	neutral	None	None	None	None	N
T/M	0.0976	likely_benign	0.0913	benign	-0.068	Destabilizing	0.325	N	0.408	neutral	None	None	None	None	N
T/N	0.1124	likely_benign	0.0982	benign	-0.651	Destabilizing	0.842	D	0.502	neutral	None	None	None	None	N
T/P	0.1919	likely_benign	0.1387	benign	-0.49	Destabilizing	0.966	D	0.565	neutral	N	0.49679928	None	None	N
T/Q	0.2136	likely_benign	0.1943	benign	-0.786	Destabilizing	0.974	D	0.569	neutral	None	None	None	None	N
T/R	0.1485	likely_benign	0.1306	benign	-0.51	Destabilizing	0.934	D	0.565	neutral	N	0.479110416	None	None	N
T/S	0.0991	likely_benign	0.0905	benign	-1.003	Destabilizing	0.022	N	0.171	neutral	N	0.431143111	None	None	N
T/V	0.1111	likely_benign	0.1066	benign	-0.49	Destabilizing	0.728	D	0.475	neutral	None	None	None	None	N
T/W	0.5377	ambiguous	0.5143	ambiguous	-0.853	Destabilizing	0.998	D	0.612	neutral	None	None	None	None	N
T/Y	0.2289	likely_benign	0.2025	benign	-0.625	Destabilizing	0.974	D	0.629	neutral	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.