TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6856	20791;20792;20793	chr2:178725638;178725637;178725636	chr2:179590365;179590364;179590363
N2AB	6539	19840;19841;19842	chr2:178725638;178725637;178725636	chr2:179590365;179590364;179590363
N2A	5612	17059;17060;17061	chr2:178725638;178725637;178725636	chr2:179590365;179590364;179590363
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-53
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1203
• 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/V	None	None	1.0	D	0.754	0.815	0.765320684573	gnomAD-4.0.0	6.98616E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.12629E-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	0.9613	likely_pathogenic	0.9656	pathogenic	-2.868	Highly Destabilizing	1.0	D	0.8	deleterious	None	None	None	None	N
F/C	0.9111	likely_pathogenic	0.9203	pathogenic	-1.61	Destabilizing	1.0	D	0.853	deleterious	D	0.552920287	None	None	N
F/D	0.9925	likely_pathogenic	0.9955	pathogenic	-2.903	Highly Destabilizing	1.0	D	0.859	deleterious	None	None	None	None	N
F/E	0.993	likely_pathogenic	0.9952	pathogenic	-2.732	Highly Destabilizing	1.0	D	0.862	deleterious	None	None	None	None	N
F/G	0.9858	likely_pathogenic	0.9878	pathogenic	-3.273	Highly Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
F/H	0.9683	likely_pathogenic	0.9764	pathogenic	-1.649	Destabilizing	1.0	D	0.817	deleterious	None	None	None	None	N
F/I	0.4988	ambiguous	0.5537	ambiguous	-1.56	Destabilizing	1.0	D	0.769	deleterious	N	0.493445145	None	None	N
F/K	0.9938	likely_pathogenic	0.9961	pathogenic	-1.736	Destabilizing	1.0	D	0.863	deleterious	None	None	None	None	N
F/L	0.9586	likely_pathogenic	0.958	pathogenic	-1.56	Destabilizing	0.999	D	0.654	neutral	D	0.531178273	None	None	N
F/M	0.834	likely_pathogenic	0.8369	pathogenic	-1.271	Destabilizing	1.0	D	0.786	deleterious	None	None	None	None	N
F/N	0.973	likely_pathogenic	0.981	pathogenic	-2.058	Highly Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	N
F/P	0.9929	likely_pathogenic	0.9941	pathogenic	-2.004	Highly Destabilizing	1.0	D	0.874	deleterious	None	None	None	None	N
F/Q	0.9896	likely_pathogenic	0.9921	pathogenic	-2.103	Highly Destabilizing	1.0	D	0.872	deleterious	None	None	None	None	N
F/R	0.9864	likely_pathogenic	0.991	pathogenic	-1.148	Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	N
F/S	0.9635	likely_pathogenic	0.971	pathogenic	-2.735	Highly Destabilizing	1.0	D	0.847	deleterious	D	0.552413308	None	None	N
F/T	0.9572	likely_pathogenic	0.9659	pathogenic	-2.464	Highly Destabilizing	1.0	D	0.847	deleterious	None	None	None	None	N
F/V	0.6337	likely_pathogenic	0.6776	pathogenic	-2.004	Highly Destabilizing	1.0	D	0.754	deleterious	D	0.530417805	None	None	N
F/W	0.8115	likely_pathogenic	0.8266	pathogenic	-0.411	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
F/Y	0.483	ambiguous	0.5322	ambiguous	-0.778	Destabilizing	0.999	D	0.599	neutral	D	0.541310492	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.