TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6120	18583;18584;18585	chr2:178729895;178729894;178729893	chr2:179594622;179594621;179594620
N2AB	5803	17632;17633;17634	chr2:178729895;178729894;178729893	chr2:179594622;179594621;179594620
N2A	4876	14851;14852;14853	chr2:178729895;178729894;178729893	chr2:179594622;179594621;179594620
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: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-45
• Domain position: 16
• Structural Position: 24
• Q(SASA): 0.3568
• 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
G/A	rs764816850	-0.357	0.997	D	0.684	0.74	0.673390244647	gnomAD-2.1.1	2.01E-05	None	None	None	None	I	None	0	0	None	0	2.80584E-04	None	0	None	0	0	0
G/A	rs764816850	-0.357	0.997	D	0.684	0.74	0.673390244647	gnomAD-3.1.2	6.57E-06	None	None	None	None	I	None	0	0	0	0	1.93199E-04	None	0	0	0	0	0
G/A	rs764816850	-0.357	0.997	D	0.684	0.74	0.673390244647	gnomAD-4.0.0	1.53814E-05	None	None	None	None	I	None	0	0	None	0	2.91687E-04	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
G/A	0.2719	likely_benign	0.2926	benign	-0.313	Destabilizing	0.997	D	0.684	prob.neutral	D	0.616861028	None	None	I
G/C	0.4452	ambiguous	0.4685	ambiguous	-0.915	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	I
G/D	0.1982	likely_benign	0.2084	benign	-0.514	Destabilizing	1.0	D	0.833	deleterious	None	None	None	None	I
G/E	0.2392	likely_benign	0.2561	benign	-0.681	Destabilizing	1.0	D	0.804	deleterious	D	0.584570499	None	None	I
G/F	0.6577	likely_pathogenic	0.6715	pathogenic	-1.075	Destabilizing	1.0	D	0.828	deleterious	None	None	None	None	I
G/H	0.3627	ambiguous	0.4087	ambiguous	-0.51	Destabilizing	1.0	D	0.812	deleterious	None	None	None	None	I
G/I	0.5382	ambiguous	0.5857	pathogenic	-0.493	Destabilizing	1.0	D	0.831	deleterious	None	None	None	None	I
G/K	0.3734	ambiguous	0.3943	ambiguous	-0.708	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/L	0.58	likely_pathogenic	0.6009	pathogenic	-0.493	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	I
G/M	0.6312	likely_pathogenic	0.6446	pathogenic	-0.468	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
G/N	0.2437	likely_benign	0.2631	benign	-0.413	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
G/P	0.9377	likely_pathogenic	0.9437	pathogenic	-0.402	Destabilizing	1.0	D	0.82	deleterious	None	None	None	None	I
G/Q	0.2853	likely_benign	0.3243	benign	-0.713	Destabilizing	1.0	D	0.824	deleterious	None	None	None	None	I
G/R	0.2415	likely_benign	0.274	benign	-0.271	Destabilizing	1.0	D	0.823	deleterious	D	0.63842198	None	None	I
G/S	0.1167	likely_benign	0.1345	benign	-0.567	Destabilizing	0.986	D	0.583	neutral	None	None	None	None	I
G/T	0.3085	likely_benign	0.3237	benign	-0.664	Destabilizing	0.999	D	0.801	deleterious	None	None	None	None	I
G/V	0.4601	ambiguous	0.5002	ambiguous	-0.402	Destabilizing	1.0	D	0.815	deleterious	D	0.629105033	None	None	I
G/W	0.4809	ambiguous	0.4804	ambiguous	-1.195	Destabilizing	1.0	D	0.797	deleterious	None	None	None	None	I
G/Y	0.4833	ambiguous	0.5255	ambiguous	-0.851	Destabilizing	1.0	D	0.825	deleterious	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.