TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20777	62554;62555;62556	chr2:178589396;178589395;178589394	chr2:179454123;179454122;179454121
N2AB	19136	57631;57632;57633	chr2:178589396;178589395;178589394	chr2:179454123;179454122;179454121
N2A	18209	54850;54851;54852	chr2:178589396;178589395;178589394	chr2:179454123;179454122;179454121
N2B	11712	35359;35360;35361	chr2:178589396;178589395;178589394	chr2:179454123;179454122;179454121
Novex-1	11837	35734;35735;35736	chr2:178589396;178589395;178589394	chr2:179454123;179454122;179454121
Novex-2	11904	35935;35936;35937	chr2:178589396;178589395;178589394	chr2:179454123;179454122;179454121
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGG
• RefSeq wild type template codon: CCC
• Domain: Ig-122
• Domain position: 9
• Structural Position: 10
• Q(SASA): 0.3787
• 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/E	rs786205541	None	1.0	N	0.826	0.472	0.304760801415	gnomAD-4.0.0	2.73735E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	3.47222E-04	1.7991E-06	0	0
G/V	None	None	1.0	N	0.841	0.457	0.484037581386	gnomAD-4.0.0	6.84337E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.99548E-07	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	0.2899	likely_benign	0.3003	benign	-0.235	Destabilizing	1.0	D	0.631	neutral	N	0.395794733	None	None	I
G/C	0.5448	ambiguous	0.6036	pathogenic	-0.979	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	I
G/D	0.4877	ambiguous	0.5559	ambiguous	-0.384	Destabilizing	1.0	D	0.825	deleterious	None	None	None	None	I
G/E	0.5624	ambiguous	0.5995	pathogenic	-0.534	Destabilizing	1.0	D	0.826	deleterious	N	0.41601529	None	None	I
G/F	0.918	likely_pathogenic	0.9182	pathogenic	-0.933	Destabilizing	1.0	D	0.82	deleterious	None	None	None	None	I
G/H	0.7263	likely_pathogenic	0.7496	pathogenic	-0.369	Destabilizing	1.0	D	0.766	deleterious	None	None	None	None	I
G/I	0.8132	likely_pathogenic	0.8144	pathogenic	-0.44	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	I
G/K	0.7969	likely_pathogenic	0.8211	pathogenic	-0.695	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	I
G/L	0.8336	likely_pathogenic	0.8389	pathogenic	-0.44	Destabilizing	1.0	D	0.842	deleterious	None	None	None	None	I
G/M	0.8351	likely_pathogenic	0.8404	pathogenic	-0.651	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
G/N	0.5021	ambiguous	0.5218	ambiguous	-0.425	Destabilizing	1.0	D	0.742	deleterious	None	None	None	None	I
G/P	0.9136	likely_pathogenic	0.9194	pathogenic	-0.344	Destabilizing	1.0	D	0.824	deleterious	None	None	None	None	I
G/Q	0.6488	likely_pathogenic	0.6693	pathogenic	-0.649	Destabilizing	1.0	D	0.824	deleterious	None	None	None	None	I
G/R	0.6897	likely_pathogenic	0.7175	pathogenic	-0.333	Destabilizing	0.953	D	0.575	neutral	N	0.440142943	None	None	I
G/S	0.1745	likely_benign	0.183	benign	-0.586	Destabilizing	1.0	D	0.698	prob.neutral	None	None	None	None	I
G/T	0.3661	ambiguous	0.3661	ambiguous	-0.663	Destabilizing	1.0	D	0.825	deleterious	None	None	None	None	I
G/V	0.6435	likely_pathogenic	0.6433	pathogenic	-0.344	Destabilizing	1.0	D	0.841	deleterious	N	0.461422293	None	None	I
G/W	0.8244	likely_pathogenic	0.8292	pathogenic	-1.064	Destabilizing	1.0	D	0.776	deleterious	N	0.462604648	None	None	I
G/Y	0.8328	likely_pathogenic	0.8462	pathogenic	-0.742	Destabilizing	1.0	D	0.813	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.