TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9230	27913;27914;27915	chr2:178712142;178712141;178712140	chr2:179576869;179576868;179576867
N2AB	8913	26962;26963;26964	chr2:178712142;178712141;178712140	chr2:179576869;179576868;179576867
N2A	7986	24181;24182;24183	chr2:178712142;178712141;178712140	chr2:179576869;179576868;179576867
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-78
• Domain position: 26
• Structural Position: 40
• Q(SASA): 0.3696
• 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/E	None	None	0.999	D	0.777	0.847	0.806988583114	gnomAD-4.0.0	1.59123E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85822E-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	0.6006	likely_pathogenic	0.6676	pathogenic	-0.389	Destabilizing	0.983	D	0.629	neutral	D	0.573680197	None	None	I
G/C	0.9476	likely_pathogenic	0.9639	pathogenic	-0.653	Destabilizing	1.0	D	0.662	neutral	None	None	None	None	I
G/D	0.982	likely_pathogenic	0.9911	pathogenic	-0.744	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	I
G/E	0.9839	likely_pathogenic	0.992	pathogenic	-0.856	Destabilizing	0.999	D	0.777	deleterious	D	0.640615056	None	None	I
G/F	0.993	likely_pathogenic	0.9953	pathogenic	-0.913	Destabilizing	0.999	D	0.767	deleterious	None	None	None	None	I
G/H	0.9957	likely_pathogenic	0.998	pathogenic	-0.903	Destabilizing	1.0	D	0.675	prob.neutral	None	None	None	None	I
G/I	0.9811	likely_pathogenic	0.9861	pathogenic	-0.278	Destabilizing	0.989	D	0.78	deleterious	None	None	None	None	I
G/K	0.995	likely_pathogenic	0.9973	pathogenic	-1.038	Destabilizing	0.999	D	0.775	deleterious	None	None	None	None	I
G/L	0.9895	likely_pathogenic	0.9923	pathogenic	-0.278	Destabilizing	0.996	D	0.789	deleterious	None	None	None	None	I
G/M	0.9922	likely_pathogenic	0.9944	pathogenic	-0.339	Destabilizing	1.0	D	0.713	prob.delet.	None	None	None	None	I
G/N	0.987	likely_pathogenic	0.9929	pathogenic	-0.594	Destabilizing	1.0	D	0.789	deleterious	None	None	None	None	I
G/P	0.9979	likely_pathogenic	0.9986	pathogenic	-0.277	Destabilizing	1.0	D	0.768	deleterious	None	None	None	None	I
G/Q	0.9891	likely_pathogenic	0.9944	pathogenic	-0.815	Destabilizing	1.0	D	0.764	deleterious	None	None	None	None	I
G/R	0.9814	likely_pathogenic	0.9907	pathogenic	-0.666	Destabilizing	0.999	D	0.761	deleterious	D	0.660266894	None	None	I
G/S	0.7161	likely_pathogenic	0.7613	pathogenic	-0.743	Destabilizing	0.998	D	0.811	deleterious	None	None	None	None	I
G/T	0.9524	likely_pathogenic	0.9554	pathogenic	-0.784	Destabilizing	0.998	D	0.781	deleterious	None	None	None	None	I
G/V	0.9484	likely_pathogenic	0.9625	pathogenic	-0.277	Destabilizing	0.652	D	0.598	neutral	D	0.634728782	None	None	I
G/W	0.9915	likely_pathogenic	0.9953	pathogenic	-1.207	Destabilizing	1.0	D	0.663	neutral	None	None	None	None	I
G/Y	0.9931	likely_pathogenic	0.9964	pathogenic	-0.81	Destabilizing	1.0	D	0.769	deleterious	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.