TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7961	24106;24107;24108	chr2:178719611;178719610;178719609	chr2:179584338;179584337;179584336
N2AB	7644	23155;23156;23157	chr2:178719611;178719610;178719609	chr2:179584338;179584337;179584336
N2A	6717	20374;20375;20376	chr2:178719611;178719610;178719609	chr2:179584338;179584337;179584336
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: F
• RefSeq wild type transcript codon: TTT
• RefSeq wild type template codon: AAA
• Domain: Ig-64
• Domain position: 73
• Structural Position: 156
• Q(SASA): 0.061
• 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
F/L	None	None	0.035	N	0.447	0.184	0.107399877778	gnomAD-4.0.0	6.84365E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99688E-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
F/A	0.9804	likely_pathogenic	0.9803	pathogenic	-2.954	Highly Destabilizing	0.939	D	0.786	deleterious	None	None	None	None	N
F/C	0.8363	likely_pathogenic	0.8773	pathogenic	-1.588	Destabilizing	0.035	N	0.671	neutral	N	0.32250683	None	None	N
F/D	0.9997	likely_pathogenic	0.9996	pathogenic	-3.613	Highly Destabilizing	0.997	D	0.87	deleterious	None	None	None	None	N
F/E	0.9995	likely_pathogenic	0.9994	pathogenic	-3.395	Highly Destabilizing	0.997	D	0.869	deleterious	None	None	None	None	N
F/G	0.9947	likely_pathogenic	0.9947	pathogenic	-3.389	Highly Destabilizing	0.991	D	0.837	deleterious	None	None	None	None	N
F/H	0.9962	likely_pathogenic	0.9957	pathogenic	-2.091	Highly Destabilizing	0.999	D	0.793	deleterious	None	None	None	None	N
F/I	0.7833	likely_pathogenic	0.8129	pathogenic	-1.51	Destabilizing	0.852	D	0.716	prob.delet.	N	0.45493625	None	None	N
F/K	0.9994	likely_pathogenic	0.9993	pathogenic	-2.128	Highly Destabilizing	0.997	D	0.869	deleterious	None	None	None	None	N
F/L	0.9652	likely_pathogenic	0.9677	pathogenic	-1.51	Destabilizing	0.035	N	0.447	neutral	N	0.473444653	None	None	N
F/M	0.8946	likely_pathogenic	0.9026	pathogenic	-1.104	Destabilizing	0.982	D	0.703	prob.neutral	None	None	None	None	N
F/N	0.9986	likely_pathogenic	0.9982	pathogenic	-2.703	Highly Destabilizing	0.997	D	0.876	deleterious	None	None	None	None	N
F/P	0.9999	likely_pathogenic	0.9998	pathogenic	-2.006	Highly Destabilizing	0.997	D	0.872	deleterious	None	None	None	None	N
F/Q	0.9985	likely_pathogenic	0.9984	pathogenic	-2.625	Highly Destabilizing	0.997	D	0.881	deleterious	None	None	None	None	N
F/R	0.997	likely_pathogenic	0.9967	pathogenic	-1.723	Destabilizing	0.997	D	0.875	deleterious	None	None	None	None	N
F/S	0.9927	likely_pathogenic	0.9919	pathogenic	-3.217	Highly Destabilizing	0.988	D	0.812	deleterious	N	0.48086026	None	None	N
F/T	0.9919	likely_pathogenic	0.9906	pathogenic	-2.889	Highly Destabilizing	0.969	D	0.811	deleterious	None	None	None	None	N
F/V	0.7195	likely_pathogenic	0.745	pathogenic	-2.006	Highly Destabilizing	0.852	D	0.75	deleterious	N	0.448586281	None	None	N
F/W	0.9535	likely_pathogenic	0.9543	pathogenic	-0.609	Destabilizing	0.999	D	0.685	prob.neutral	None	None	None	None	N
F/Y	0.7551	likely_pathogenic	0.7366	pathogenic	-1.021	Destabilizing	0.986	D	0.658	neutral	N	0.48086026	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.