TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	25142	75649;75650;75651	chr2:178570708;178570707;178570706	chr2:179435435;179435434;179435433
N2AB	23501	70726;70727;70728	chr2:178570708;178570707;178570706	chr2:179435435;179435434;179435433
N2A	22574	67945;67946;67947	chr2:178570708;178570707;178570706	chr2:179435435;179435434;179435433
N2B	16077	48454;48455;48456	chr2:178570708;178570707;178570706	chr2:179435435;179435434;179435433
Novex-1	16202	48829;48830;48831	chr2:178570708;178570707;178570706	chr2:179435435;179435434;179435433
Novex-2	16269	49030;49031;49032	chr2:178570708;178570707;178570706	chr2:179435435;179435434;179435433
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-134
• Domain position: 32
• Structural Position: 45
• Q(SASA): 0.5815
• 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
T/A	rs1707881545	None	0.002	N	0.159	0.098	0.176091768786	gnomAD-4.0.0	1.59167E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85933E-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
T/A	0.0656	likely_benign	0.0673	benign	-0.391	Destabilizing	0.002	N	0.159	neutral	N	0.486871325	None	None	N
T/C	0.2873	likely_benign	0.3251	benign	-0.291	Destabilizing	0.977	D	0.533	neutral	None	None	None	None	N
T/D	0.2232	likely_benign	0.2443	benign	0.005	Stabilizing	0.005	N	0.292	neutral	None	None	None	None	N
T/E	0.1915	likely_benign	0.2048	benign	-0.041	Destabilizing	0.25	N	0.455	neutral	None	None	None	None	N
T/F	0.1823	likely_benign	0.2052	benign	-0.666	Destabilizing	0.92	D	0.58	neutral	None	None	None	None	N
T/G	0.1707	likely_benign	0.1786	benign	-0.581	Destabilizing	0.25	N	0.439	neutral	None	None	None	None	N
T/H	0.188	likely_benign	0.2075	benign	-0.861	Destabilizing	0.92	D	0.569	neutral	None	None	None	None	N
T/I	0.1168	likely_benign	0.1249	benign	0.003	Stabilizing	0.81	D	0.581	neutral	N	0.484593601	None	None	N
T/K	0.1712	likely_benign	0.1892	benign	-0.578	Destabilizing	0.617	D	0.475	neutral	None	None	None	None	N
T/L	0.081	likely_benign	0.0879	benign	0.003	Stabilizing	0.447	N	0.469	neutral	None	None	None	None	N
T/M	0.0885	likely_benign	0.0922	benign	0.089	Stabilizing	0.972	D	0.552	neutral	None	None	None	None	N
T/N	0.0891	likely_benign	0.0926	benign	-0.372	Destabilizing	0.016	N	0.226	neutral	N	0.495189438	None	None	N
T/P	0.3725	ambiguous	0.3972	ambiguous	-0.097	Destabilizing	0.712	D	0.569	neutral	D	0.535957078	None	None	N
T/Q	0.1763	likely_benign	0.1908	benign	-0.546	Destabilizing	0.92	D	0.587	neutral	None	None	None	None	N
T/R	0.154	likely_benign	0.1786	benign	-0.311	Destabilizing	0.617	D	0.569	neutral	None	None	None	None	N
T/S	0.0789	likely_benign	0.0822	benign	-0.567	Destabilizing	0.002	N	0.149	neutral	N	0.479934348	None	None	N
T/V	0.0901	likely_benign	0.0954	benign	-0.097	Destabilizing	0.447	N	0.378	neutral	None	None	None	None	N
T/W	0.5434	ambiguous	0.5936	pathogenic	-0.684	Destabilizing	0.992	D	0.584	neutral	None	None	None	None	N
T/Y	0.2152	likely_benign	0.242	benign	-0.425	Destabilizing	0.972	D	0.581	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.