TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8937	27034;27035;27036	chr2:178713325;178713324;178713323	chr2:179578052;179578051;179578050
N2AB	8620	26083;26084;26085	chr2:178713325;178713324;178713323	chr2:179578052;179578051;179578050
N2A	7693	23302;23303;23304	chr2:178713325;178713324;178713323	chr2:179578052;179578051;179578050
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: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Ig-75
• Domain position: 12
• Structural Position: 16
• Q(SASA): 0.2624
• 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/V	None	None	0.704	N	0.519	0.242	0.329540904979	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
G/A	0.1008	likely_benign	0.1154	benign	-0.701	Destabilizing	0.826	D	0.407	neutral	N	0.358970794	None	None	N
G/C	0.1938	likely_benign	0.2278	benign	-1.059	Destabilizing	0.077	N	0.485	neutral	N	0.433548698	None	None	N
G/D	0.5521	ambiguous	0.7018	pathogenic	-0.899	Destabilizing	0.988	D	0.614	neutral	N	0.488479261	None	None	N
G/E	0.4822	ambiguous	0.6343	pathogenic	-0.95	Destabilizing	0.991	D	0.607	neutral	None	None	None	None	N
G/F	0.5645	likely_pathogenic	0.6558	pathogenic	-1.028	Destabilizing	0.982	D	0.632	neutral	None	None	None	None	N
G/H	0.5524	ambiguous	0.6592	pathogenic	-1.245	Destabilizing	0.999	D	0.543	neutral	None	None	None	None	N
G/I	0.2428	likely_benign	0.2994	benign	-0.315	Destabilizing	0.321	N	0.424	neutral	None	None	None	None	N
G/K	0.6172	likely_pathogenic	0.7412	pathogenic	-1.092	Destabilizing	0.991	D	0.606	neutral	None	None	None	None	N
G/L	0.4305	ambiguous	0.5165	ambiguous	-0.315	Destabilizing	0.046	N	0.375	neutral	None	None	None	None	N
G/M	0.4812	ambiguous	0.5662	pathogenic	-0.353	Destabilizing	0.982	D	0.605	neutral	None	None	None	None	N
G/N	0.5321	ambiguous	0.6498	pathogenic	-0.823	Destabilizing	0.991	D	0.57	neutral	None	None	None	None	N
G/P	0.9428	likely_pathogenic	0.949	pathogenic	-0.402	Destabilizing	0.046	N	0.387	neutral	None	None	None	None	N
G/Q	0.4997	ambiguous	0.6198	pathogenic	-0.987	Destabilizing	0.997	D	0.606	neutral	None	None	None	None	N
G/R	0.4718	ambiguous	0.5939	pathogenic	-0.848	Destabilizing	0.988	D	0.61	neutral	N	0.458329712	None	None	N
G/S	0.1104	likely_benign	0.1351	benign	-1.159	Destabilizing	0.852	D	0.457	neutral	N	0.441994823	None	None	N
G/T	0.1815	likely_benign	0.2148	benign	-1.118	Destabilizing	0.17	N	0.389	neutral	None	None	None	None	N
G/V	0.175	likely_benign	0.2118	benign	-0.402	Destabilizing	0.704	D	0.519	neutral	N	0.344382557	None	None	N
G/W	0.5808	likely_pathogenic	0.6689	pathogenic	-1.352	Destabilizing	0.999	D	0.546	neutral	None	None	None	None	N
G/Y	0.4884	ambiguous	0.6011	pathogenic	-0.927	Destabilizing	0.997	D	0.612	neutral	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.