TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6972	21139;21140;21141	chr2:178724461;178724460;178724459	chr2:179589188;179589187;179589186
N2AB	6655	20188;20189;20190	chr2:178724461;178724460;178724459	chr2:179589188;179589187;179589186
N2A	5728	17407;17408;17409	chr2:178724461;178724460;178724459	chr2:179589188;179589187;179589186
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: A
• RefSeq wild type transcript codon: GCT
• RefSeq wild type template codon: CGA
• Domain: Ig-54
• Domain position: 25
• Structural Position: 38
• Q(SASA): 0.3603
• 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
A/S	None	None	0.062	N	0.12	0.203	0.185906805712	gnomAD-4.0.0	4.77747E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.58163E-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
A/C	0.5377	ambiguous	0.5675	pathogenic	-0.84	Destabilizing	0.998	D	0.382	neutral	None	None	None	None	N
A/D	0.1996	likely_benign	0.2191	benign	-0.531	Destabilizing	0.934	D	0.389	neutral	N	0.433164696	None	None	N
A/E	0.2063	likely_benign	0.2232	benign	-0.584	Destabilizing	0.842	D	0.323	neutral	None	None	None	None	N
A/F	0.2717	likely_benign	0.2825	benign	-0.613	Destabilizing	0.949	D	0.431	neutral	None	None	None	None	N
A/G	0.1601	likely_benign	0.1661	benign	-0.641	Destabilizing	0.012	N	0.117	neutral	N	0.454060043	None	None	N
A/H	0.4252	ambiguous	0.4409	ambiguous	-0.605	Destabilizing	0.998	D	0.425	neutral	None	None	None	None	N
A/I	0.2239	likely_benign	0.2308	benign	-0.082	Destabilizing	0.904	D	0.337	neutral	None	None	None	None	N
A/K	0.3982	ambiguous	0.4133	ambiguous	-0.92	Destabilizing	0.842	D	0.322	neutral	None	None	None	None	N
A/L	0.1649	likely_benign	0.174	benign	-0.082	Destabilizing	0.016	N	0.245	neutral	None	None	None	None	N
A/M	0.2028	likely_benign	0.2091	benign	-0.321	Destabilizing	0.949	D	0.377	neutral	None	None	None	None	N
A/N	0.2231	likely_benign	0.2281	benign	-0.72	Destabilizing	0.949	D	0.392	neutral	None	None	None	None	N
A/P	0.8793	likely_pathogenic	0.8981	pathogenic	-0.162	Destabilizing	0.966	D	0.369	neutral	N	0.483862875	None	None	N
A/Q	0.3096	likely_benign	0.3153	benign	-0.847	Destabilizing	0.974	D	0.385	neutral	None	None	None	None	N
A/R	0.323	likely_benign	0.3483	ambiguous	-0.56	Destabilizing	0.974	D	0.367	neutral	None	None	None	None	N
A/S	0.0831	likely_benign	0.0828	benign	-1.035	Destabilizing	0.062	N	0.12	neutral	N	0.411498557	None	None	N
A/T	0.076	likely_benign	0.0798	benign	-0.983	Destabilizing	0.669	D	0.355	neutral	N	0.415346939	None	None	N
A/V	0.1269	likely_benign	0.131	benign	-0.162	Destabilizing	0.669	D	0.355	neutral	N	0.431356541	None	None	N
A/W	0.6593	likely_pathogenic	0.6852	pathogenic	-0.899	Destabilizing	0.998	D	0.567	neutral	None	None	None	None	N
A/Y	0.4227	ambiguous	0.4331	ambiguous	-0.493	Destabilizing	0.991	D	0.433	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.