TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4797	14614;14615;14616	chr2:178736057;178736056;178736055	chr2:179600784;179600783;179600782
N2AB	4480	13663;13664;13665	chr2:178736057;178736056;178736055	chr2:179600784;179600783;179600782
N2A	3553	10882;10883;10884	chr2:178736057;178736056;178736055	chr2:179600784;179600783;179600782
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-31
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1541
• 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/C	None	None	1.0	D	0.829	0.851	0.880808525782	gnomAD-4.0.0	6.95456E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	9.09098E-07	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	0.9885	likely_pathogenic	0.9934	pathogenic	-2.922	Highly Destabilizing	0.996	D	0.81	deleterious	None	None	None	None	I
F/C	0.9607	likely_pathogenic	0.9812	pathogenic	-2.198	Highly Destabilizing	1.0	D	0.829	deleterious	D	0.760963506	None	None	I
F/D	0.9982	likely_pathogenic	0.999	pathogenic	-3.249	Highly Destabilizing	1.0	D	0.866	deleterious	None	None	None	None	I
F/E	0.9981	likely_pathogenic	0.9991	pathogenic	-3.17	Highly Destabilizing	1.0	D	0.862	deleterious	None	None	None	None	I
F/G	0.9951	likely_pathogenic	0.9972	pathogenic	-3.237	Highly Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	I
F/H	0.9862	likely_pathogenic	0.9904	pathogenic	-1.487	Destabilizing	1.0	D	0.759	deleterious	None	None	None	None	I
F/I	0.7777	likely_pathogenic	0.8472	pathogenic	-1.929	Destabilizing	0.978	D	0.699	prob.neutral	N	0.517581877	None	None	I
F/K	0.9976	likely_pathogenic	0.9988	pathogenic	-1.804	Destabilizing	1.0	D	0.861	deleterious	None	None	None	None	I
F/L	0.983	likely_pathogenic	0.989	pathogenic	-1.929	Destabilizing	0.217	N	0.362	neutral	D	0.526685268	None	None	I
F/M	0.9388	likely_pathogenic	0.9581	pathogenic	-1.854	Destabilizing	0.998	D	0.718	prob.delet.	None	None	None	None	I
F/N	0.9922	likely_pathogenic	0.9957	pathogenic	-1.971	Destabilizing	1.0	D	0.861	deleterious	None	None	None	None	I
F/P	0.9978	likely_pathogenic	0.999	pathogenic	-2.262	Highly Destabilizing	1.0	D	0.868	deleterious	None	None	None	None	I
F/Q	0.9965	likely_pathogenic	0.9981	pathogenic	-2.218	Highly Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	I
F/R	0.9934	likely_pathogenic	0.9961	pathogenic	-0.964	Destabilizing	1.0	D	0.86	deleterious	None	None	None	None	I
F/S	0.985	likely_pathogenic	0.9927	pathogenic	-2.601	Highly Destabilizing	0.999	D	0.845	deleterious	D	0.723629862	None	None	I
F/T	0.9905	likely_pathogenic	0.9953	pathogenic	-2.427	Highly Destabilizing	0.999	D	0.829	deleterious	None	None	None	None	I
F/V	0.8254	likely_pathogenic	0.8964	pathogenic	-2.262	Highly Destabilizing	0.978	D	0.728	prob.delet.	D	0.585304833	None	None	I
F/W	0.9382	likely_pathogenic	0.9539	pathogenic	-0.76	Destabilizing	1.0	D	0.715	prob.delet.	None	None	None	None	I
F/Y	0.7017	likely_pathogenic	0.7285	pathogenic	-1.04	Destabilizing	0.998	D	0.676	prob.neutral	D	0.685858602	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.