TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32771	98536;98537;98538	chr2:178539754;178539753;178539752	chr2:179404481;179404480;179404479
N2AB	31130	93613;93614;93615	chr2:178539754;178539753;178539752	chr2:179404481;179404480;179404479
N2A	30203	90832;90833;90834	chr2:178539754;178539753;178539752	chr2:179404481;179404480;179404479
N2B	23706	71341;71342;71343	chr2:178539754;178539753;178539752	chr2:179404481;179404480;179404479
Novex-1	23831	71716;71717;71718	chr2:178539754;178539753;178539752	chr2:179404481;179404480;179404479
Novex-2	23898	71917;71918;71919	chr2:178539754;178539753;178539752	chr2:179404481;179404480;179404479
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-155
• Domain position: 64
• Structural Position: 152
• Q(SASA): 0.1934
• 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
G/D	None	None	0.997	D	0.823	0.509	0.578683183886	gnomAD-4.0.0	2.40065E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.62502E-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
G/A	0.6632	likely_pathogenic	0.6687	pathogenic	-0.688	Destabilizing	0.983	D	0.745	deleterious	D	0.579577189	None	None	N
G/C	0.9209	likely_pathogenic	0.9228	pathogenic	-0.965	Destabilizing	1.0	D	0.745	deleterious	D	0.623959922	None	None	N
G/D	0.9415	likely_pathogenic	0.9479	pathogenic	-0.916	Destabilizing	0.997	D	0.823	deleterious	D	0.607536952	None	None	N
G/E	0.9794	likely_pathogenic	0.9818	pathogenic	-0.97	Destabilizing	0.998	D	0.813	deleterious	None	None	None	None	N
G/F	0.9932	likely_pathogenic	0.9938	pathogenic	-1.032	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
G/H	0.9925	likely_pathogenic	0.9929	pathogenic	-1.272	Destabilizing	1.0	D	0.767	deleterious	None	None	None	None	N
G/I	0.9932	likely_pathogenic	0.9939	pathogenic	-0.291	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	N
G/K	0.9905	likely_pathogenic	0.9912	pathogenic	-1.136	Destabilizing	0.998	D	0.814	deleterious	None	None	None	None	N
G/L	0.9873	likely_pathogenic	0.9881	pathogenic	-0.291	Destabilizing	0.998	D	0.787	deleterious	None	None	None	None	N
G/M	0.992	likely_pathogenic	0.9925	pathogenic	-0.269	Destabilizing	1.0	D	0.749	deleterious	None	None	None	None	N
G/N	0.9712	likely_pathogenic	0.9734	pathogenic	-0.834	Destabilizing	0.998	D	0.816	deleterious	None	None	None	None	N
G/P	0.999	likely_pathogenic	0.999	pathogenic	-0.381	Destabilizing	0.999	D	0.797	deleterious	None	None	None	None	N
G/Q	0.9789	likely_pathogenic	0.9796	pathogenic	-0.993	Destabilizing	0.999	D	0.791	deleterious	None	None	None	None	N
G/R	0.9728	likely_pathogenic	0.9745	pathogenic	-0.863	Destabilizing	0.997	D	0.797	deleterious	D	0.623758117	None	None	N
G/S	0.6904	likely_pathogenic	0.6879	pathogenic	-1.154	Destabilizing	0.778	D	0.687	prob.neutral	D	0.597816397	None	None	N
G/T	0.9616	likely_pathogenic	0.9625	pathogenic	-1.115	Destabilizing	0.996	D	0.809	deleterious	None	None	None	None	N
G/V	0.9811	likely_pathogenic	0.9828	pathogenic	-0.381	Destabilizing	0.997	D	0.783	deleterious	D	0.623959922	None	None	N
G/W	0.9927	likely_pathogenic	0.9935	pathogenic	-1.38	Destabilizing	1.0	D	0.763	deleterious	None	None	None	None	N
G/Y	0.9935	likely_pathogenic	0.9942	pathogenic	-0.952	Destabilizing	1.0	D	0.797	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.