TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9923	29992;29993;29994	chr2:178704705;178704704;178704703	chr2:179569432;179569431;179569430
N2AB	9606	29041;29042;29043	chr2:178704705;178704704;178704703	chr2:179569432;179569431;179569430
N2A	8679	26260;26261;26262	chr2:178704705;178704704;178704703	chr2:179569432;179569431;179569430
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: I
• RefSeq wild type transcript codon: ATT
• RefSeq wild type template codon: TAA
• Domain: Ig-84
• Domain position: 24
• Structural Position: 35
• Q(SASA): 0.1178
• 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
I/T	None	None	0.989	None	0.761	0.599	0.746399086789	gnomAD-4.0.0	1.20034E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31252E-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
I/A	0.9769	likely_pathogenic	0.9766	pathogenic	-2.938	Highly Destabilizing	0.992	D	0.715	prob.delet.	None	None	None	None	N
I/C	0.9821	likely_pathogenic	0.9823	pathogenic	-2.42	Highly Destabilizing	1.0	D	0.788	deleterious	None	None	None	None	N
I/D	0.9993	likely_pathogenic	0.9987	pathogenic	-3.809	Highly Destabilizing	1.0	D	0.854	deleterious	None	None	None	None	N
I/E	0.9971	likely_pathogenic	0.9955	pathogenic	-3.542	Highly Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
I/F	0.8793	likely_pathogenic	0.8554	pathogenic	-1.679	Destabilizing	0.998	D	0.771	deleterious	None	None	None	None	N
I/G	0.997	likely_pathogenic	0.996	pathogenic	-3.496	Highly Destabilizing	1.0	D	0.852	deleterious	None	None	None	None	N
I/H	0.9982	likely_pathogenic	0.9974	pathogenic	-3.111	Highly Destabilizing	1.0	D	0.84	deleterious	None	None	None	None	N
I/K	0.994	likely_pathogenic	0.9907	pathogenic	-2.458	Highly Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
I/L	0.4654	ambiguous	0.4747	ambiguous	-1.272	Destabilizing	0.889	D	0.442	neutral	None	None	None	None	N
I/M	0.4715	ambiguous	0.4815	ambiguous	-1.39	Destabilizing	0.998	D	0.731	prob.delet.	None	None	None	None	N
I/N	0.9914	likely_pathogenic	0.9875	pathogenic	-3.013	Highly Destabilizing	0.999	D	0.854	deleterious	None	None	None	None	N
I/P	0.9993	likely_pathogenic	0.9986	pathogenic	-1.817	Destabilizing	1.0	D	0.853	deleterious	None	None	None	None	N
I/Q	0.9959	likely_pathogenic	0.9941	pathogenic	-2.768	Highly Destabilizing	1.0	D	0.863	deleterious	None	None	None	None	N
I/R	0.9904	likely_pathogenic	0.9853	pathogenic	-2.232	Highly Destabilizing	1.0	D	0.861	deleterious	None	None	None	None	N
I/S	0.9867	likely_pathogenic	0.9824	pathogenic	-3.584	Highly Destabilizing	0.998	D	0.825	deleterious	None	None	None	None	N
I/T	0.9722	likely_pathogenic	0.9707	pathogenic	-3.178	Highly Destabilizing	0.989	D	0.761	deleterious	None	None	None	None	N
I/V	0.28	likely_benign	0.3063	benign	-1.817	Destabilizing	0.333	N	0.245	neutral	None	None	None	None	N
I/W	0.9975	likely_pathogenic	0.9952	pathogenic	-2.231	Highly Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	N
I/Y	0.9883	likely_pathogenic	0.9823	pathogenic	-2.032	Highly Destabilizing	1.0	D	0.799	deleterious	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.