TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26273	79042;79043;79044	chr2:178567315;178567314;178567313	chr2:179432042;179432041;179432040
N2AB	24632	74119;74120;74121	chr2:178567315;178567314;178567313	chr2:179432042;179432041;179432040
N2A	23705	71338;71339;71340	chr2:178567315;178567314;178567313	chr2:179432042;179432041;179432040
N2B	17208	51847;51848;51849	chr2:178567315;178567314;178567313	chr2:179432042;179432041;179432040
Novex-1	17333	52222;52223;52224	chr2:178567315;178567314;178567313	chr2:179432042;179432041;179432040
Novex-2	17400	52423;52424;52425	chr2:178567315;178567314;178567313	chr2:179432042;179432041;179432040
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: Ig-137
• Domain position: 81
• Structural Position: 164
• Q(SASA): 0.1475
• 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/D	None	None	0.976	D	0.779	0.788	0.475430695062	gnomAD-4.0.0	1.60977E-06	None	None	None	None	I	None	0	0	None	4.85767E-05	0	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	0.8547	likely_pathogenic	0.8136	pathogenic	-0.197	Destabilizing	0.919	D	0.503	neutral	D	0.614534047	None	None	I
G/C	0.9618	likely_pathogenic	0.9417	pathogenic	-0.886	Destabilizing	0.999	D	0.756	deleterious	D	0.653123381	None	None	I
G/D	0.9731	likely_pathogenic	0.9563	pathogenic	-0.354	Destabilizing	0.976	D	0.779	deleterious	D	0.598111077	None	None	I
G/E	0.9835	likely_pathogenic	0.9752	pathogenic	-0.513	Destabilizing	0.18	N	0.489	neutral	None	None	None	None	I
G/F	0.9947	likely_pathogenic	0.992	pathogenic	-0.978	Destabilizing	0.999	D	0.798	deleterious	None	None	None	None	I
G/H	0.9928	likely_pathogenic	0.9876	pathogenic	-0.396	Destabilizing	0.999	D	0.796	deleterious	None	None	None	None	I
G/I	0.995	likely_pathogenic	0.9922	pathogenic	-0.443	Destabilizing	0.995	D	0.781	deleterious	None	None	None	None	I
G/K	0.9927	likely_pathogenic	0.9877	pathogenic	-0.543	Destabilizing	0.982	D	0.789	deleterious	None	None	None	None	I
G/L	0.9921	likely_pathogenic	0.9873	pathogenic	-0.443	Destabilizing	0.991	D	0.775	deleterious	None	None	None	None	I
G/M	0.9953	likely_pathogenic	0.9924	pathogenic	-0.514	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	I
G/N	0.9778	likely_pathogenic	0.9675	pathogenic	-0.284	Destabilizing	0.991	D	0.749	deleterious	None	None	None	None	I
G/P	0.9996	likely_pathogenic	0.9994	pathogenic	-0.335	Destabilizing	0.995	D	0.783	deleterious	None	None	None	None	I
G/Q	0.9833	likely_pathogenic	0.974	pathogenic	-0.528	Destabilizing	0.982	D	0.783	deleterious	None	None	None	None	I
G/R	0.98	likely_pathogenic	0.965	pathogenic	-0.195	Destabilizing	0.988	D	0.783	deleterious	D	0.614735851	None	None	I
G/S	0.8017	likely_pathogenic	0.7392	pathogenic	-0.429	Destabilizing	0.414	N	0.359	neutral	D	0.603016895	None	None	I
G/T	0.9723	likely_pathogenic	0.9611	pathogenic	-0.518	Destabilizing	0.982	D	0.79	deleterious	None	None	None	None	I
G/V	0.9868	likely_pathogenic	0.9805	pathogenic	-0.335	Destabilizing	0.988	D	0.776	deleterious	D	0.636700412	None	None	I
G/W	0.995	likely_pathogenic	0.9914	pathogenic	-1.102	Destabilizing	1.0	D	0.745	deleterious	None	None	None	None	I
G/Y	0.9928	likely_pathogenic	0.9882	pathogenic	-0.771	Destabilizing	1.0	D	0.798	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.