TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26579	79960;79961;79962	chr2:178566397;178566396;178566395	chr2:179431124;179431123;179431122
N2AB	24938	75037;75038;75039	chr2:178566397;178566396;178566395	chr2:179431124;179431123;179431122
N2A	24011	72256;72257;72258	chr2:178566397;178566396;178566395	chr2:179431124;179431123;179431122
N2B	17514	52765;52766;52767	chr2:178566397;178566396;178566395	chr2:179431124;179431123;179431122
Novex-1	17639	53140;53141;53142	chr2:178566397;178566396;178566395	chr2:179431124;179431123;179431122
Novex-2	17706	53341;53342;53343	chr2:178566397;178566396;178566395	chr2:179431124;179431123;179431122
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Fn3-81
• Domain position: 93
• Structural Position: 125
• Q(SASA): 0.4669
• 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
G/D	None	None	0.176	N	0.59	0.179	0.143124449307	gnomAD-4.0.0	6.84322E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99535E-07	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
G/A	0.1828	likely_benign	0.1705	benign	-0.251	Destabilizing	0.967	D	0.725	deleterious	N	0.470714815	None	None	N
G/C	0.2911	likely_benign	0.2734	benign	-0.914	Destabilizing	1.0	D	0.765	deleterious	N	0.483592057	None	None	N
G/D	0.2715	likely_benign	0.2334	benign	-0.489	Destabilizing	0.176	N	0.59	neutral	N	0.480429341	None	None	N
G/E	0.2772	likely_benign	0.2329	benign	-0.649	Destabilizing	0.986	D	0.849	deleterious	None	None	None	None	N
G/F	0.6367	likely_pathogenic	0.6315	pathogenic	-0.991	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	N
G/H	0.5183	ambiguous	0.489	ambiguous	-0.469	Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	N
G/I	0.4078	ambiguous	0.3788	ambiguous	-0.443	Destabilizing	0.999	D	0.825	deleterious	None	None	None	None	N
G/K	0.5264	ambiguous	0.4977	ambiguous	-0.754	Destabilizing	0.993	D	0.863	deleterious	None	None	None	None	N
G/L	0.517	ambiguous	0.4798	ambiguous	-0.443	Destabilizing	0.996	D	0.837	deleterious	None	None	None	None	N
G/M	0.5494	ambiguous	0.5196	ambiguous	-0.58	Destabilizing	1.0	D	0.741	deleterious	None	None	None	None	N
G/N	0.3371	likely_benign	0.3007	benign	-0.426	Destabilizing	0.986	D	0.747	deleterious	None	None	None	None	N
G/P	0.8717	likely_pathogenic	0.8472	pathogenic	-0.349	Destabilizing	0.996	D	0.857	deleterious	None	None	None	None	N
G/Q	0.4079	ambiguous	0.3697	ambiguous	-0.683	Destabilizing	0.993	D	0.845	deleterious	None	None	None	None	N
G/R	0.4352	ambiguous	0.3975	ambiguous	-0.353	Destabilizing	0.995	D	0.852	deleterious	N	0.470968304	None	None	N
G/S	0.142	likely_benign	0.1284	benign	-0.56	Destabilizing	0.981	D	0.751	deleterious	N	0.458179967	None	None	N
G/T	0.2263	likely_benign	0.2116	benign	-0.65	Destabilizing	0.993	D	0.867	deleterious	None	None	None	None	N
G/V	0.2813	likely_benign	0.2568	benign	-0.349	Destabilizing	0.995	D	0.847	deleterious	N	0.469700857	None	None	N
G/W	0.5814	likely_pathogenic	0.5822	pathogenic	-1.134	Destabilizing	1.0	D	0.72	deleterious	None	None	None	None	N
G/Y	0.5335	ambiguous	0.5132	ambiguous	-0.798	Destabilizing	1.0	D	0.825	deleterious	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.