TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28205	84838;84839;84840	chr2:178561519;178561518;178561517	chr2:179426246;179426245;179426244
N2AB	26564	79915;79916;79917	chr2:178561519;178561518;178561517	chr2:179426246;179426245;179426244
N2A	25637	77134;77135;77136	chr2:178561519;178561518;178561517	chr2:179426246;179426245;179426244
N2B	19140	57643;57644;57645	chr2:178561519;178561518;178561517	chr2:179426246;179426245;179426244
Novex-1	19265	58018;58019;58020	chr2:178561519;178561518;178561517	chr2:179426246;179426245;179426244
Novex-2	19332	58219;58220;58221	chr2:178561519;178561518;178561517	chr2:179426246;179426245;179426244
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: Fn3-93
• Domain position: 52
• Structural Position: 69
• Q(SASA): 0.1539
• 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	0.999	N	0.599	0.357	0.193865811164	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	0.8072	likely_pathogenic	0.7801	pathogenic	-0.725	Destabilizing	1.0	D	0.699	prob.neutral	None	None	None	None	N
N/C	0.6261	likely_pathogenic	0.6353	pathogenic	0.085	Stabilizing	1.0	D	0.761	deleterious	None	None	None	None	N
N/D	0.7567	likely_pathogenic	0.7145	pathogenic	-0.881	Destabilizing	0.999	D	0.636	neutral	N	0.49988152	None	None	N
N/E	0.9684	likely_pathogenic	0.9625	pathogenic	-0.741	Destabilizing	0.999	D	0.711	prob.delet.	None	None	None	None	N
N/F	0.9928	likely_pathogenic	0.9914	pathogenic	-0.259	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
N/G	0.6158	likely_pathogenic	0.5793	pathogenic	-1.108	Destabilizing	0.999	D	0.596	neutral	None	None	None	None	N
N/H	0.7	likely_pathogenic	0.7067	pathogenic	-1.004	Destabilizing	1.0	D	0.752	deleterious	N	0.484690554	None	None	N
N/I	0.9456	likely_pathogenic	0.9378	pathogenic	0.273	Stabilizing	1.0	D	0.803	deleterious	N	0.502603772	None	None	N
N/K	0.9793	likely_pathogenic	0.9769	pathogenic	-0.563	Destabilizing	1.0	D	0.735	prob.delet.	N	0.497323853	None	None	N
N/L	0.9224	likely_pathogenic	0.9148	pathogenic	0.273	Stabilizing	1.0	D	0.789	deleterious	None	None	None	None	N
N/M	0.9433	likely_pathogenic	0.9331	pathogenic	0.636	Stabilizing	1.0	D	0.758	deleterious	None	None	None	None	N
N/P	0.9534	likely_pathogenic	0.957	pathogenic	-0.03	Destabilizing	1.0	D	0.79	deleterious	None	None	None	None	N
N/Q	0.9377	likely_pathogenic	0.9296	pathogenic	-0.91	Destabilizing	1.0	D	0.769	deleterious	None	None	None	None	N
N/R	0.9661	likely_pathogenic	0.9622	pathogenic	-0.821	Destabilizing	1.0	D	0.757	deleterious	None	None	None	None	N
N/S	0.1246	likely_benign	0.1148	benign	-1.071	Destabilizing	0.999	D	0.599	neutral	N	0.478419449	None	None	N
N/T	0.4187	ambiguous	0.4105	ambiguous	-0.751	Destabilizing	0.999	D	0.698	prob.neutral	N	0.468277685	None	None	N
N/V	0.8716	likely_pathogenic	0.8584	pathogenic	-0.03	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
N/W	0.9962	likely_pathogenic	0.996	pathogenic	-0.159	Destabilizing	1.0	D	0.751	deleterious	None	None	None	None	N
N/Y	0.9427	likely_pathogenic	0.9365	pathogenic	0.074	Stabilizing	1.0	D	0.79	deleterious	N	0.484628102	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.