TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9399	28420;28421;28422	chr2:178710902;178710901;178710900	chr2:179575629;179575628;179575627
N2AB	9082	27469;27470;27471	chr2:178710902;178710901;178710900	chr2:179575629;179575628;179575627
N2A	8155	24688;24689;24690	chr2:178710902;178710901;178710900	chr2:179575629;179575628;179575627
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-80
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1228
• 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/I	None	None	0.4	None	0.429	0.426	0.41883969893	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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	0.9698	likely_pathogenic	0.9815	pathogenic	-3.12	Highly Destabilizing	0.993	D	0.799	deleterious	None	None	None	None	N
F/C	0.9202	likely_pathogenic	0.9549	pathogenic	-2.11	Highly Destabilizing	1.0	D	0.842	deleterious	None	None	None	None	N
F/D	0.9962	likely_pathogenic	0.9976	pathogenic	-3.178	Highly Destabilizing	0.999	D	0.89	deleterious	None	None	None	None	N
F/E	0.9963	likely_pathogenic	0.9977	pathogenic	-3.093	Highly Destabilizing	0.999	D	0.89	deleterious	None	None	None	None	N
F/G	0.9901	likely_pathogenic	0.9928	pathogenic	-3.441	Highly Destabilizing	0.999	D	0.871	deleterious	None	None	None	None	N
F/H	0.9706	likely_pathogenic	0.9804	pathogenic	-1.618	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
F/I	0.7171	likely_pathogenic	0.8487	pathogenic	-2.098	Highly Destabilizing	0.4	N	0.429	neutral	None	None	None	None	N
F/K	0.9946	likely_pathogenic	0.9965	pathogenic	-1.849	Destabilizing	0.999	D	0.891	deleterious	None	None	None	None	N
F/L	0.9705	likely_pathogenic	0.9821	pathogenic	-2.098	Highly Destabilizing	0.135	N	0.328	neutral	None	None	None	None	N
F/M	0.9172	likely_pathogenic	0.9499	pathogenic	-1.922	Destabilizing	0.996	D	0.739	prob.delet.	None	None	None	None	N
F/N	0.9898	likely_pathogenic	0.9946	pathogenic	-1.972	Destabilizing	0.999	D	0.879	deleterious	None	None	None	None	N
F/P	0.9929	likely_pathogenic	0.9954	pathogenic	-2.443	Highly Destabilizing	0.999	D	0.888	deleterious	None	None	None	None	N
F/Q	0.9915	likely_pathogenic	0.9945	pathogenic	-2.214	Highly Destabilizing	0.999	D	0.893	deleterious	None	None	None	None	N
F/R	0.9823	likely_pathogenic	0.9868	pathogenic	-0.984	Destabilizing	0.999	D	0.879	deleterious	None	None	None	None	N
F/S	0.9611	likely_pathogenic	0.9775	pathogenic	-2.639	Highly Destabilizing	0.999	D	0.84	deleterious	None	None	None	None	N
F/T	0.9637	likely_pathogenic	0.9796	pathogenic	-2.462	Highly Destabilizing	0.998	D	0.853	deleterious	None	None	None	None	N
F/V	0.7555	likely_pathogenic	0.8674	pathogenic	-2.443	Highly Destabilizing	0.911	D	0.77	deleterious	None	None	None	None	N
F/W	0.8595	likely_pathogenic	0.9008	pathogenic	-0.827	Destabilizing	1.0	D	0.736	prob.delet.	None	None	None	None	N
F/Y	0.6637	likely_pathogenic	0.7445	pathogenic	-1.157	Destabilizing	0.997	D	0.687	prob.neutral	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.