TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3899	11920;11921;11922	chr2:178741538;178741537;178741536	chr2:179606265;179606264;179606263
N2AB	3582	10969;10970;10971	chr2:178741538;178741537;178741536	chr2:179606265;179606264;179606263
N2A	None	None	chr2:None	chr2:None
N2B	3536	10831;10832;10833	chr2:178741538;178741537;178741536	chr2:179606265;179606264;179606263
Novex-1	3661	11206;11207;11208	chr2:178741538;178741537;178741536	chr2:179606265;179606264;179606263
Novex-2	3728	11407;11408;11409	chr2:178741538;178741537;178741536	chr2:179606265;179606264;179606263
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-27
• Domain position: 80
• Structural Position: 164
• Q(SASA): 0.1853
• Predicted PPI site: I

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/R	None	None	1.0	D	0.872	0.63	None	gnomAD-4.0.0	1.59119E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85806E-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	0.5007	ambiguous	0.471	ambiguous	-0.486	Destabilizing	1.0	D	0.727	prob.delet.	D	0.730805163	None	None	I
G/C	0.5398	ambiguous	0.5692	pathogenic	-0.822	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	I
G/D	0.6337	likely_pathogenic	0.6458	pathogenic	-0.863	Destabilizing	1.0	D	0.857	deleterious	None	None	None	None	I
G/E	0.5922	likely_pathogenic	0.5971	pathogenic	-1.032	Destabilizing	1.0	D	0.843	deleterious	D	0.740964939	None	None	I
G/F	0.9287	likely_pathogenic	0.9208	pathogenic	-1.217	Destabilizing	1.0	D	0.847	deleterious	None	None	None	None	I
G/H	0.8088	likely_pathogenic	0.8074	pathogenic	-0.775	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
G/I	0.8496	likely_pathogenic	0.8368	pathogenic	-0.591	Destabilizing	1.0	D	0.852	deleterious	None	None	None	None	I
G/K	0.7451	likely_pathogenic	0.7418	pathogenic	-1.0	Destabilizing	1.0	D	0.844	deleterious	None	None	None	None	I
G/L	0.8804	likely_pathogenic	0.8693	pathogenic	-0.591	Destabilizing	1.0	D	0.84	deleterious	None	None	None	None	I
G/M	0.9041	likely_pathogenic	0.8944	pathogenic	-0.468	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	I
G/N	0.7451	likely_pathogenic	0.7227	pathogenic	-0.566	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/P	0.988	likely_pathogenic	0.9883	pathogenic	-0.522	Destabilizing	1.0	D	0.866	deleterious	None	None	None	None	I
G/Q	0.6414	likely_pathogenic	0.64	pathogenic	-0.902	Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	I
G/R	0.5015	ambiguous	0.5191	ambiguous	-0.483	Destabilizing	1.0	D	0.872	deleterious	D	0.749112808	None	None	I
G/S	0.2943	likely_benign	0.2727	benign	-0.686	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	I
G/T	0.686	likely_pathogenic	0.653	pathogenic	-0.797	Destabilizing	1.0	D	0.839	deleterious	None	None	None	None	I
G/V	0.7589	likely_pathogenic	0.7476	pathogenic	-0.522	Destabilizing	1.0	D	0.841	deleterious	D	0.830391993	None	None	I
G/W	0.7858	likely_pathogenic	0.8043	pathogenic	-1.364	Destabilizing	1.0	D	0.814	deleterious	None	None	None	None	I
G/Y	0.8496	likely_pathogenic	0.8506	pathogenic	-1.033	Destabilizing	1.0	D	0.846	deleterious	None	None	None	None	I

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.