TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5102	15529;15530;15531	chr2:178734520;178734519;178734518	chr2:179599247;179599246;179599245
N2AB	4785	14578;14579;14580	chr2:178734520;178734519;178734518	chr2:179599247;179599246;179599245
N2A	3858	11797;11798;11799	chr2:178734520;178734519;178734518	chr2:179599247;179599246;179599245
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: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-34
• Domain position: 28
• Structural Position: 42
• Q(SASA): 0.3865
• 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
G/R	None	None	0.999	N	0.714	0.5	0.716320526391	gnomAD-4.0.0	1.59285E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.86113E-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
G/A	0.0891	likely_benign	0.0954	benign	-0.228	Destabilizing	0.406	N	0.295	neutral	N	0.406252825	None	None	I
G/C	0.272	likely_benign	0.3269	benign	-0.852	Destabilizing	1.0	D	0.708	prob.delet.	None	None	None	None	I
G/D	0.4234	ambiguous	0.4594	ambiguous	-0.496	Destabilizing	0.999	D	0.736	prob.delet.	None	None	None	None	I
G/E	0.2809	likely_benign	0.3007	benign	-0.643	Destabilizing	0.999	D	0.721	prob.delet.	N	0.494968389	None	None	I
G/F	0.5828	likely_pathogenic	0.6401	pathogenic	-0.907	Destabilizing	1.0	D	0.732	prob.delet.	None	None	None	None	I
G/H	0.5454	ambiguous	0.584	pathogenic	-0.422	Destabilizing	1.0	D	0.681	prob.neutral	None	None	None	None	I
G/I	0.2788	likely_benign	0.3209	benign	-0.368	Destabilizing	0.999	D	0.731	prob.delet.	None	None	None	None	I
G/K	0.5346	ambiguous	0.5727	pathogenic	-0.783	Destabilizing	0.998	D	0.72	prob.delet.	None	None	None	None	I
G/L	0.3532	ambiguous	0.4125	ambiguous	-0.368	Destabilizing	0.998	D	0.751	deleterious	None	None	None	None	I
G/M	0.4452	ambiguous	0.4988	ambiguous	-0.594	Destabilizing	1.0	D	0.705	prob.neutral	None	None	None	None	I
G/N	0.4646	ambiguous	0.5056	ambiguous	-0.43	Destabilizing	1.0	D	0.765	deleterious	None	None	None	None	I
G/P	0.3691	ambiguous	0.3812	ambiguous	-0.29	Destabilizing	0.999	D	0.697	prob.neutral	None	None	None	None	I
G/Q	0.4045	ambiguous	0.4325	ambiguous	-0.673	Destabilizing	1.0	D	0.724	prob.delet.	None	None	None	None	I
G/R	0.4146	ambiguous	0.4339	ambiguous	-0.38	Destabilizing	0.999	D	0.714	prob.delet.	N	0.513630782	None	None	I
G/S	0.1053	likely_benign	0.1096	benign	-0.567	Destabilizing	0.988	D	0.63	neutral	None	None	None	None	I
G/T	0.1834	likely_benign	0.2095	benign	-0.644	Destabilizing	0.998	D	0.727	prob.delet.	None	None	None	None	I
G/V	0.1814	likely_benign	0.2095	benign	-0.29	Destabilizing	0.998	D	0.75	deleterious	N	0.495878608	None	None	I
G/W	0.519	ambiguous	0.5628	ambiguous	-1.075	Destabilizing	1.0	D	0.657	neutral	None	None	None	None	I
G/Y	0.4724	ambiguous	0.5353	ambiguous	-0.728	Destabilizing	1.0	D	0.736	prob.delet.	None	None	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.