TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5219	15880;15881;15882	chr2:178733734;178733733;178733732	chr2:179598461;179598460;179598459
N2AB	4902	14929;14930;14931	chr2:178733734;178733733;178733732	chr2:179598461;179598460;179598459
N2A	3975	12148;12149;12150	chr2:178733734;178733733;178733732	chr2:179598461;179598460;179598459
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-35
• Domain position: 52
• Structural Position: 130
• Q(SASA): 0.4579
• 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
S/P	rs759581032	-0.041	0.055	N	0.283	0.219	0.15556083564	gnomAD-2.1.1	8.03E-06	None	None	None	None	N	None	0	5.79E-05	None	0	0	None	0	None	0	0	0
S/P	rs759581032	-0.041	0.055	N	0.283	0.219	0.15556083564	gnomAD-4.0.0	3.18225E-06	None	None	None	None	N	None	0	4.57268E-05	None	0	0	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
S/A	0.0629	likely_benign	0.0755	benign	-0.232	Destabilizing	None	N	0.075	neutral	N	0.510326482	None	None	N
S/C	0.0981	likely_benign	0.1098	benign	-0.372	Destabilizing	0.612	D	0.319	neutral	D	0.632341433	None	None	N
S/D	0.1762	likely_benign	0.1756	benign	0.462	Stabilizing	None	N	0.068	neutral	None	None	None	None	N
S/E	0.2014	likely_benign	0.2196	benign	0.369	Stabilizing	None	N	0.069	neutral	None	None	None	None	N
S/F	0.1199	likely_benign	0.1403	benign	-0.927	Destabilizing	0.295	N	0.373	neutral	D	0.631433287	None	None	N
S/G	0.0869	likely_benign	0.088	benign	-0.305	Destabilizing	0.016	N	0.246	neutral	None	None	None	None	N
S/H	0.1752	likely_benign	0.176	benign	-0.661	Destabilizing	0.356	N	0.325	neutral	None	None	None	None	N
S/I	0.0976	likely_benign	0.1037	benign	-0.174	Destabilizing	0.072	N	0.348	neutral	None	None	None	None	N
S/K	0.2967	likely_benign	0.3249	benign	-0.258	Destabilizing	0.016	N	0.204	neutral	None	None	None	None	N
S/L	0.0762	likely_benign	0.0852	benign	-0.174	Destabilizing	0.016	N	0.312	neutral	None	None	None	None	N
S/M	0.1393	likely_benign	0.1661	benign	-0.195	Destabilizing	0.356	N	0.328	neutral	None	None	None	None	N
S/N	0.1005	likely_benign	0.087	benign	-0.095	Destabilizing	0.016	N	0.187	neutral	None	None	None	None	N
S/P	0.3274	likely_benign	0.4616	ambiguous	-0.167	Destabilizing	0.055	N	0.283	neutral	N	0.51420548	None	None	N
S/Q	0.2212	likely_benign	0.2353	benign	-0.263	Destabilizing	0.038	N	0.17	neutral	None	None	None	None	N
S/R	0.2442	likely_benign	0.2481	benign	-0.09	Destabilizing	0.072	N	0.292	neutral	None	None	None	None	N
S/T	0.066	likely_benign	0.0699	benign	-0.209	Destabilizing	None	N	0.103	neutral	N	0.502918738	None	None	N
S/V	0.098	likely_benign	0.1172	benign	-0.167	Destabilizing	0.016	N	0.312	neutral	None	None	None	None	N
S/W	0.2026	likely_benign	0.2509	benign	-0.993	Destabilizing	0.864	D	0.373	neutral	None	None	None	None	N
S/Y	0.1142	likely_benign	0.1349	benign	-0.669	Destabilizing	0.295	N	0.365	neutral	D	0.589990332	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.