TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3821	11686;11687;11688	chr2:178741772;178741771;178741770	chr2:179606499;179606498;179606497
N2AB	3504	10735;10736;10737	chr2:178741772;178741771;178741770	chr2:179606499;179606498;179606497
N2A	None	None	chr2:None	chr2:None
N2B	3458	10597;10598;10599	chr2:178741772;178741771;178741770	chr2:179606499;179606498;179606497
Novex-1	3583	10972;10973;10974	chr2:178741772;178741771;178741770	chr2:179606499;179606498;179606497
Novex-2	3650	11173;11174;11175	chr2:178741772;178741771;178741770	chr2:179606499;179606498;179606497
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: I
• RefSeq wild type transcript codon: ATT
• RefSeq wild type template codon: TAA
• Domain: Ig-27
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.6413
• 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
I/V	rs867402675	None	None	N	0.061	0.087	None	gnomAD-3.1.2	6.57E-06	None	None	None	None	I	None	2.41E-05	0	0	0	0	None	0	0	0	0	0
I/V	rs867402675	None	None	N	0.061	0.087	None	gnomAD-4.0.0	1.3015E-05	None	None	None	None	I	None	3.99989E-05	0	None	0	2.90282E-04	None	0	0	1.69536E-06	3.29388E-05	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
I/A	0.1624	likely_benign	0.1477	benign	-1.097	Destabilizing	None	N	0.135	neutral	None	None	None	None	I
I/C	0.4303	ambiguous	0.4209	ambiguous	-0.833	Destabilizing	0.245	N	0.333	neutral	None	None	None	None	I
I/D	0.3171	likely_benign	0.2843	benign	-0.489	Destabilizing	None	N	0.214	neutral	None	None	None	None	I
I/E	0.2996	likely_benign	0.257	benign	-0.456	Destabilizing	None	N	0.213	neutral	None	None	None	None	I
I/F	0.1242	likely_benign	0.1149	benign	-0.59	Destabilizing	0.033	N	0.275	neutral	N	0.492490801	None	None	I
I/G	0.3575	ambiguous	0.3244	benign	-1.388	Destabilizing	0.004	N	0.212	neutral	None	None	None	None	I
I/H	0.2826	likely_benign	0.2399	benign	-0.345	Destabilizing	0.245	N	0.407	neutral	None	None	None	None	I
I/K	0.1989	likely_benign	0.154	benign	-0.665	Destabilizing	0.004	N	0.263	neutral	None	None	None	None	I
I/L	0.1007	likely_benign	0.0863	benign	-0.375	Destabilizing	None	N	0.107	neutral	N	0.480304299	None	None	I
I/M	0.0953	likely_benign	0.0859	benign	-0.576	Destabilizing	None	N	0.125	neutral	N	0.506430877	None	None	I
I/N	0.1311	likely_benign	0.1081	benign	-0.735	Destabilizing	0.007	N	0.306	neutral	N	0.493798954	None	None	I
I/P	0.7277	likely_pathogenic	0.707	pathogenic	-0.585	Destabilizing	0.018	N	0.329	neutral	None	None	None	None	I
I/Q	0.2374	likely_benign	0.1971	benign	-0.804	Destabilizing	0.009	N	0.386	neutral	None	None	None	None	I
I/R	0.1221	likely_benign	0.1045	benign	-0.179	Destabilizing	0.018	N	0.431	neutral	None	None	None	None	I
I/S	0.1394	likely_benign	0.1219	benign	-1.301	Destabilizing	None	N	0.149	neutral	N	0.461448605	None	None	I
I/T	0.1207	likely_benign	0.1067	benign	-1.143	Destabilizing	None	N	0.138	neutral	N	0.472620702	None	None	I
I/V	0.0564	likely_benign	0.0569	benign	-0.585	Destabilizing	None	N	0.061	neutral	N	0.415282289	None	None	I
I/W	0.6556	likely_pathogenic	0.6458	pathogenic	-0.662	Destabilizing	0.788	D	0.367	neutral	None	None	None	None	I
I/Y	0.3135	likely_benign	0.2996	benign	-0.412	Destabilizing	0.085	N	0.423	neutral	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.