TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7594	23005;23006;23007	chr2:178721883;178721882;178721881	chr2:179586610;179586609;179586608
N2AB	7277	22054;22055;22056	chr2:178721883;178721882;178721881	chr2:179586610;179586609;179586608
N2A	6350	19273;19274;19275	chr2:178721883;178721882;178721881	chr2:179586610;179586609;179586608
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: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-60
• Domain position: 80
• Structural Position: 164
• Q(SASA): 0.1712
• 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/D	None	None	1.0	D	0.845	0.546	0.604580495079	gnomAD-4.0.0	1.59456E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	1.43852E-05	0
G/V	None	None	1.0	D	0.833	0.585	0.926821394966	gnomAD-4.0.0	1.59456E-06	None	None	None	None	I	None	0	0	None	0	2.77346E-05	None	0	0	0	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	0.8349	likely_pathogenic	0.7831	pathogenic	-0.476	Destabilizing	1.0	D	0.713	prob.delet.	D	0.595032216	None	None	I
G/C	0.9585	likely_pathogenic	0.9341	pathogenic	-0.852	Destabilizing	1.0	D	0.794	deleterious	D	0.639657832	None	None	I
G/D	0.9493	likely_pathogenic	0.9172	pathogenic	-1.003	Destabilizing	1.0	D	0.845	deleterious	D	0.588360162	None	None	I
G/E	0.9624	likely_pathogenic	0.9356	pathogenic	-1.178	Destabilizing	1.0	D	0.829	deleterious	None	None	None	None	I
G/F	0.991	likely_pathogenic	0.9854	pathogenic	-1.233	Destabilizing	1.0	D	0.837	deleterious	None	None	None	None	I
G/H	0.9874	likely_pathogenic	0.9798	pathogenic	-0.753	Destabilizing	1.0	D	0.797	deleterious	None	None	None	None	I
G/I	0.9898	likely_pathogenic	0.9819	pathogenic	-0.611	Destabilizing	1.0	D	0.84	deleterious	None	None	None	None	I
G/K	0.9844	likely_pathogenic	0.9747	pathogenic	-1.049	Destabilizing	1.0	D	0.831	deleterious	None	None	None	None	I
G/L	0.9845	likely_pathogenic	0.9769	pathogenic	-0.611	Destabilizing	1.0	D	0.827	deleterious	None	None	None	None	I
G/M	0.9918	likely_pathogenic	0.9856	pathogenic	-0.47	Destabilizing	1.0	D	0.794	deleterious	None	None	None	None	I
G/N	0.968	likely_pathogenic	0.9523	pathogenic	-0.629	Destabilizing	1.0	D	0.796	deleterious	None	None	None	None	I
G/P	0.9985	likely_pathogenic	0.9976	pathogenic	-0.533	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	I
G/Q	0.9664	likely_pathogenic	0.9469	pathogenic	-0.98	Destabilizing	1.0	D	0.847	deleterious	None	None	None	None	I
G/R	0.9538	likely_pathogenic	0.9291	pathogenic	-0.502	Destabilizing	1.0	D	0.852	deleterious	D	0.609628229	None	None	I
G/S	0.6923	likely_pathogenic	0.6162	pathogenic	-0.719	Destabilizing	1.0	D	0.785	deleterious	D	0.621822232	None	None	I
G/T	0.949	likely_pathogenic	0.9209	pathogenic	-0.84	Destabilizing	1.0	D	0.826	deleterious	None	None	None	None	I
G/V	0.9757	likely_pathogenic	0.9599	pathogenic	-0.533	Destabilizing	1.0	D	0.833	deleterious	D	0.629735472	None	None	I
G/W	0.9771	likely_pathogenic	0.962	pathogenic	-1.372	Destabilizing	1.0	D	0.792	deleterious	None	None	None	None	I
G/Y	0.9863	likely_pathogenic	0.9769	pathogenic	-1.05	Destabilizing	1.0	D	0.837	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.