TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30307	91144;91145;91146	chr2:178551981;178551980;178551979	chr2:179416708;179416707;179416706
N2AB	28666	86221;86222;86223	chr2:178551981;178551980;178551979	chr2:179416708;179416707;179416706
N2A	27739	83440;83441;83442	chr2:178551981;178551980;178551979	chr2:179416708;179416707;179416706
N2B	21242	63949;63950;63951	chr2:178551981;178551980;178551979	chr2:179416708;179416707;179416706
Novex-1	21367	64324;64325;64326	chr2:178551981;178551980;178551979	chr2:179416708;179416707;179416706
Novex-2	21434	64525;64526;64527	chr2:178551981;178551980;178551979	chr2:179416708;179416707;179416706
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: V
• RefSeq wild type transcript codon: GTC
• RefSeq wild type template codon: CAG
• Domain: Fn3-108
• Domain position: 84
• Structural Position: 117
• Q(SASA): 0.3783
• 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
V/D	rs1452208068	-1.252	1.0	N	0.815	0.536	0.836410672133	gnomAD-2.1.1	4.02E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	None	0	8.88E-06	0
V/D	rs1452208068	-1.252	1.0	N	0.815	0.536	0.836410672133	gnomAD-4.0.0	1.59722E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.87434E-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
V/A	0.3225	likely_benign	0.3739	ambiguous	-1.137	Destabilizing	0.999	D	0.68	prob.neutral	N	0.503007917	None	None	I
V/C	0.7616	likely_pathogenic	0.7976	pathogenic	-0.843	Destabilizing	1.0	D	0.763	deleterious	None	None	None	None	I
V/D	0.6027	likely_pathogenic	0.6668	pathogenic	-0.964	Destabilizing	1.0	D	0.815	deleterious	N	0.516649218	None	None	I
V/E	0.4894	ambiguous	0.5389	ambiguous	-1.055	Destabilizing	1.0	D	0.797	deleterious	None	None	None	None	I
V/F	0.2252	likely_benign	0.2706	benign	-1.228	Destabilizing	1.0	D	0.798	deleterious	N	0.514763706	None	None	I
V/G	0.3866	ambiguous	0.4565	ambiguous	-1.328	Destabilizing	1.0	D	0.783	deleterious	N	0.470453277	None	None	I
V/H	0.7566	likely_pathogenic	0.7982	pathogenic	-0.76	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	I
V/I	0.0715	likely_benign	0.0759	benign	-0.753	Destabilizing	0.997	D	0.598	neutral	N	0.447519994	None	None	I
V/K	0.6245	likely_pathogenic	0.6498	pathogenic	-0.757	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
V/L	0.2623	likely_benign	0.3114	benign	-0.753	Destabilizing	0.997	D	0.667	neutral	N	0.474031804	None	None	I
V/M	0.1815	likely_benign	0.2112	benign	-0.508	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	I
V/N	0.4066	ambiguous	0.4779	ambiguous	-0.493	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	I
V/P	0.7744	likely_pathogenic	0.8282	pathogenic	-0.846	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
V/Q	0.5205	ambiguous	0.5496	ambiguous	-0.826	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
V/R	0.604	likely_pathogenic	0.6335	pathogenic	-0.136	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	I
V/S	0.3479	ambiguous	0.4115	ambiguous	-0.936	Destabilizing	1.0	D	0.796	deleterious	None	None	None	None	I
V/T	0.2804	likely_benign	0.3059	benign	-0.933	Destabilizing	0.999	D	0.747	deleterious	None	None	None	None	I
V/W	0.893	likely_pathogenic	0.924	pathogenic	-1.25	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
V/Y	0.6552	likely_pathogenic	0.7145	pathogenic	-0.968	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.