TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8050	24373;24374;24375	chr2:178719242;178719241;178719240	chr2:179583969;179583968;179583967
N2AB	7733	23422;23423;23424	chr2:178719242;178719241;178719240	chr2:179583969;179583968;179583967
N2A	6806	20641;20642;20643	chr2:178719242;178719241;178719240	chr2:179583969;179583968;179583967
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: S
• RefSeq wild type transcript codon: TCC
• RefSeq wild type template codon: AGG
• Domain: Ig-65
• Domain position: 66
• Structural Position: 148
• Q(SASA): 0.6172
• 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
S/P	rs2077970288	None	0.984	N	0.452	0.339	0.166414681773	gnomAD-4.0.0	3.42104E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.69844E-06	0	3.31323E-05

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
S/A	0.0682	likely_benign	0.0689	benign	-0.222	Destabilizing	0.103	N	0.153	neutral	N	0.48793689	None	None	I
S/C	0.1583	likely_benign	0.1491	benign	-0.231	Destabilizing	0.999	D	0.5	neutral	N	0.512250286	None	None	I
S/D	0.1914	likely_benign	0.19	benign	0.048	Stabilizing	0.034	N	0.22	neutral	None	None	None	None	I
S/E	0.2492	likely_benign	0.2584	benign	-0.061	Destabilizing	0.851	D	0.379	neutral	None	None	None	None	I
S/F	0.1368	likely_benign	0.1422	benign	-0.923	Destabilizing	0.984	D	0.566	neutral	N	0.47990289	None	None	I
S/G	0.0753	likely_benign	0.0735	benign	-0.29	Destabilizing	0.702	D	0.38	neutral	None	None	None	None	I
S/H	0.2261	likely_benign	0.2324	benign	-0.715	Destabilizing	0.999	D	0.483	neutral	None	None	None	None	I
S/I	0.1386	likely_benign	0.1404	benign	-0.176	Destabilizing	0.976	D	0.549	neutral	None	None	None	None	I
S/K	0.3205	likely_benign	0.3345	benign	-0.368	Destabilizing	0.919	D	0.403	neutral	None	None	None	None	I
S/L	0.0834	likely_benign	0.0887	benign	-0.176	Destabilizing	0.851	D	0.456	neutral	None	None	None	None	I
S/M	0.1705	likely_benign	0.1742	benign	0.016	Stabilizing	0.999	D	0.481	neutral	None	None	None	None	I
S/N	0.1028	likely_benign	0.1027	benign	-0.082	Destabilizing	0.919	D	0.457	neutral	None	None	None	None	I
S/P	0.1864	likely_benign	0.192	benign	-0.165	Destabilizing	0.984	D	0.452	neutral	N	0.493639052	None	None	I
S/Q	0.2981	likely_benign	0.3056	benign	-0.348	Destabilizing	0.988	D	0.458	neutral	None	None	None	None	I
S/R	0.2657	likely_benign	0.2677	benign	-0.112	Destabilizing	0.976	D	0.479	neutral	None	None	None	None	I
S/T	0.0735	likely_benign	0.0741	benign	-0.198	Destabilizing	0.026	N	0.201	neutral	N	0.469159128	None	None	I
S/V	0.1411	likely_benign	0.1461	benign	-0.165	Destabilizing	0.851	D	0.443	neutral	None	None	None	None	I
S/W	0.2211	likely_benign	0.2218	benign	-0.972	Destabilizing	0.999	D	0.689	prob.neutral	None	None	None	None	I
S/Y	0.1497	likely_benign	0.1504	benign	-0.668	Destabilizing	0.995	D	0.564	neutral	N	0.471015346	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.