TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6790	20593;20594;20595	chr2:178725954;178725953;178725952	chr2:179590681;179590680;179590679
N2AB	6473	19642;19643;19644	chr2:178725954;178725953;178725952	chr2:179590681;179590680;179590679
N2A	5546	16861;16862;16863	chr2:178725954;178725953;178725952	chr2:179590681;179590680;179590679
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-52
• Domain position: 30
• Structural Position: 44
• Q(SASA): 0.1845
• 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/L	None	None	0.999	N	0.555	0.264	0.284539287134	gnomAD-4.0.0	4.78245E-06	None	None	None	None	I	None	0	6.87758E-05	None	0	0	None	0	0	0	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	0.9559	likely_pathogenic	0.9308	pathogenic	-3.107	Highly Destabilizing	1.0	D	0.752	deleterious	None	None	None	None	I
F/C	0.9164	likely_pathogenic	0.8805	pathogenic	-1.724	Destabilizing	1.0	D	0.74	deleterious	N	0.498961646	None	None	I
F/D	0.9977	likely_pathogenic	0.9965	pathogenic	-3.016	Highly Destabilizing	1.0	D	0.837	deleterious	None	None	None	None	I
F/E	0.9973	likely_pathogenic	0.996	pathogenic	-2.861	Highly Destabilizing	1.0	D	0.835	deleterious	None	None	None	None	I
F/G	0.9911	likely_pathogenic	0.9878	pathogenic	-3.498	Highly Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	I
F/H	0.974	likely_pathogenic	0.9655	pathogenic	-1.782	Destabilizing	1.0	D	0.772	deleterious	None	None	None	None	I
F/I	0.8126	likely_pathogenic	0.6957	pathogenic	-1.842	Destabilizing	1.0	D	0.81	deleterious	N	0.49965626	None	None	I
F/K	0.997	likely_pathogenic	0.9958	pathogenic	-2.023	Highly Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	I
F/L	0.975	likely_pathogenic	0.9665	pathogenic	-1.842	Destabilizing	0.999	D	0.555	neutral	N	0.509427749	None	None	I
F/M	0.9134	likely_pathogenic	0.873	pathogenic	-1.43	Destabilizing	1.0	D	0.786	deleterious	None	None	None	None	I
F/N	0.9882	likely_pathogenic	0.9837	pathogenic	-2.273	Highly Destabilizing	1.0	D	0.822	deleterious	None	None	None	None	I
F/P	0.9898	likely_pathogenic	0.9889	pathogenic	-2.272	Highly Destabilizing	1.0	D	0.799	deleterious	None	None	None	None	I
F/Q	0.993	likely_pathogenic	0.99	pathogenic	-2.355	Highly Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
F/R	0.9897	likely_pathogenic	0.9859	pathogenic	-1.316	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	I
F/S	0.9585	likely_pathogenic	0.9423	pathogenic	-2.955	Highly Destabilizing	1.0	D	0.829	deleterious	N	0.497925463	None	None	I
F/T	0.9744	likely_pathogenic	0.9591	pathogenic	-2.707	Highly Destabilizing	1.0	D	0.827	deleterious	None	None	None	None	I
F/V	0.7634	likely_pathogenic	0.6517	pathogenic	-2.272	Highly Destabilizing	1.0	D	0.775	deleterious	N	0.479723705	None	None	I
F/W	0.8814	likely_pathogenic	0.8491	pathogenic	-0.66	Destabilizing	1.0	D	0.771	deleterious	None	None	None	None	I
F/Y	0.5601	ambiguous	0.4964	ambiguous	-1.04	Destabilizing	0.999	D	0.617	neutral	N	0.510064462	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.