TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4759	14500;14501;14502	chr2:178738178;178738177;178738176	chr2:179602905;179602904;179602903
N2AB	4442	13549;13550;13551	chr2:178738178;178738177;178738176	chr2:179602905;179602904;179602903
N2A	3515	10768;10769;10770	chr2:178738178;178738177;178738176	chr2:179602905;179602904;179602903
N2B	4396	13411;13412;13413	chr2:178738178;178738177;178738176	chr2:179602905;179602904;179602903
Novex-1	4521	13786;13787;13788	chr2:178738178;178738177;178738176	chr2:179602905;179602904;179602903
Novex-2	4588	13987;13988;13989	chr2:178738178;178738177;178738176	chr2:179602905;179602904;179602903
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: I
• RefSeq wild type transcript codon: ATC
• RefSeq wild type template codon: TAG
• Domain: Ig-30
• Domain position: 60
• Structural Position: 140
• Q(SASA): 0.1047
• 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
I/T	None	None	0.896	N	0.765	0.78	0.799649619666	gnomAD-4.0.0	1.59142E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85834E-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
I/A	0.9922	likely_pathogenic	0.9896	pathogenic	-2.795	Highly Destabilizing	0.702	D	0.719	prob.delet.	None	None	None	None	N
I/C	0.9899	likely_pathogenic	0.9857	pathogenic	-2.056	Highly Destabilizing	0.999	D	0.768	deleterious	None	None	None	None	N
I/D	0.9986	likely_pathogenic	0.9976	pathogenic	-2.903	Highly Destabilizing	0.996	D	0.861	deleterious	None	None	None	None	N
I/E	0.9974	likely_pathogenic	0.996	pathogenic	-2.716	Highly Destabilizing	0.988	D	0.859	deleterious	None	None	None	None	N
I/F	0.6236	likely_pathogenic	0.6352	pathogenic	-1.713	Destabilizing	0.968	D	0.737	prob.delet.	N	0.511481024	None	None	N
I/G	0.9978	likely_pathogenic	0.9968	pathogenic	-3.326	Highly Destabilizing	0.988	D	0.852	deleterious	None	None	None	None	N
I/H	0.9928	likely_pathogenic	0.9893	pathogenic	-2.586	Highly Destabilizing	0.999	D	0.846	deleterious	None	None	None	None	N
I/K	0.9923	likely_pathogenic	0.9887	pathogenic	-2.206	Highly Destabilizing	0.988	D	0.859	deleterious	None	None	None	None	N
I/L	0.3108	likely_benign	0.3264	benign	-1.272	Destabilizing	0.011	N	0.311	neutral	N	0.429817906	None	None	N
I/M	0.4289	ambiguous	0.4141	ambiguous	-1.112	Destabilizing	0.968	D	0.699	prob.neutral	N	0.511612807	None	None	N
I/N	0.9736	likely_pathogenic	0.9564	pathogenic	-2.423	Highly Destabilizing	0.995	D	0.853	deleterious	N	0.511318422	None	None	N
I/P	0.9988	likely_pathogenic	0.9979	pathogenic	-1.76	Destabilizing	0.996	D	0.859	deleterious	None	None	None	None	N
I/Q	0.9946	likely_pathogenic	0.9927	pathogenic	-2.366	Highly Destabilizing	0.996	D	0.867	deleterious	None	None	None	None	N
I/R	0.9905	likely_pathogenic	0.9864	pathogenic	-1.738	Destabilizing	0.996	D	0.856	deleterious	None	None	None	None	N
I/S	0.9901	likely_pathogenic	0.9842	pathogenic	-3.166	Highly Destabilizing	0.984	D	0.819	deleterious	N	0.511318422	None	None	N
I/T	0.9923	likely_pathogenic	0.9878	pathogenic	-2.837	Highly Destabilizing	0.896	D	0.765	deleterious	N	0.511229993	None	None	N
I/V	0.3013	likely_benign	0.2934	benign	-1.76	Destabilizing	0.011	N	0.258	neutral	N	0.512012923	None	None	N
I/W	0.9879	likely_pathogenic	0.9866	pathogenic	-2.031	Highly Destabilizing	0.999	D	0.84	deleterious	None	None	None	None	N
I/Y	0.9355	likely_pathogenic	0.9198	pathogenic	-1.816	Destabilizing	0.996	D	0.775	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.