TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	34365	103318;103319;103320	chr2:178533522;178533521;178533520	chr2:179398249;179398248;179398247
N2AB	32724	98395;98396;98397	chr2:178533522;178533521;178533520	chr2:179398249;179398248;179398247
N2A	31797	95614;95615;95616	chr2:178533522;178533521;178533520	chr2:179398249;179398248;179398247
N2B	25300	76123;76124;76125	chr2:178533522;178533521;178533520	chr2:179398249;179398248;179398247
Novex-1	25425	76498;76499;76500	chr2:178533522;178533521;178533520	chr2:179398249;179398248;179398247
Novex-2	25492	76699;76700;76701	chr2:178533522;178533521;178533520	chr2:179398249;179398248;179398247
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: F
• RefSeq wild type transcript codon: TTC
• RefSeq wild type template codon: AAG
• Domain: Ig-162
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1473
• 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
F/V	None	None	1.0	N	0.766	0.797	0.887936921424	gnomAD-4.0.0	1.59151E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	1.43291E-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
F/A	0.9991	likely_pathogenic	0.9983	pathogenic	-2.638	Highly Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
F/C	0.9973	likely_pathogenic	0.9944	pathogenic	-1.557	Destabilizing	1.0	D	0.793	deleterious	D	0.551768198	None	None	I
F/D	0.9997	likely_pathogenic	0.9995	pathogenic	-2.055	Highly Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
F/E	0.9996	likely_pathogenic	0.9993	pathogenic	-1.921	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	I
F/G	0.9993	likely_pathogenic	0.9986	pathogenic	-3.032	Highly Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
F/H	0.9981	likely_pathogenic	0.9969	pathogenic	-1.299	Destabilizing	1.0	D	0.776	deleterious	None	None	None	None	I
F/I	0.9825	likely_pathogenic	0.9632	pathogenic	-1.403	Destabilizing	1.0	D	0.79	deleterious	N	0.486038859	None	None	I
F/K	0.9996	likely_pathogenic	0.9992	pathogenic	-1.651	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	I
F/L	0.9982	likely_pathogenic	0.9963	pathogenic	-1.403	Destabilizing	0.999	D	0.667	neutral	N	0.504021891	None	None	I
F/M	0.9909	likely_pathogenic	0.9842	pathogenic	-1.094	Destabilizing	1.0	D	0.771	deleterious	None	None	None	None	I
F/N	0.9991	likely_pathogenic	0.9984	pathogenic	-1.825	Destabilizing	1.0	D	0.816	deleterious	None	None	None	None	I
F/P	0.9998	likely_pathogenic	0.9995	pathogenic	-1.816	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	I
F/Q	0.9993	likely_pathogenic	0.9988	pathogenic	-1.896	Destabilizing	1.0	D	0.822	deleterious	None	None	None	None	I
F/R	0.9988	likely_pathogenic	0.9979	pathogenic	-0.979	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
F/S	0.9995	likely_pathogenic	0.9988	pathogenic	-2.607	Highly Destabilizing	1.0	D	0.819	deleterious	D	0.562617525	None	None	I
F/T	0.9993	likely_pathogenic	0.9988	pathogenic	-2.373	Highly Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	I
F/V	0.9877	likely_pathogenic	0.9746	pathogenic	-1.816	Destabilizing	1.0	D	0.766	deleterious	N	0.511984382	None	None	I
F/W	0.9778	likely_pathogenic	0.9672	pathogenic	-0.419	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	I
F/Y	0.9055	likely_pathogenic	0.8638	pathogenic	-0.715	Destabilizing	0.999	D	0.637	neutral	D	0.544766759	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.