TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9005	27238;27239;27240	chr2:178713121;178713120;178713119	chr2:179577848;179577847;179577846
N2AB	8688	26287;26288;26289	chr2:178713121;178713120;178713119	chr2:179577848;179577847;179577846
N2A	7761	23506;23507;23508	chr2:178713121;178713120;178713119	chr2:179577848;179577847;179577846
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: GGT
• RefSeq wild type template codon: CCA
• Domain: Ig-75
• Domain position: 80
• Structural Position: 164
• Q(SASA): 0.2878
• 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	rs939492024	None	1.0	D	0.855	0.759	0.85784730175	gnomAD-4.0.0	1.36852E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	1.73491E-04	0	0	1.65678E-05

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	0.7754	likely_pathogenic	0.8065	pathogenic	-0.308	Destabilizing	1.0	D	0.749	deleterious	D	0.597818192	None	None	I
G/C	0.936	likely_pathogenic	0.9349	pathogenic	-0.867	Destabilizing	1.0	D	0.802	deleterious	D	0.654516369	None	None	I
G/D	0.909	likely_pathogenic	0.9163	pathogenic	-0.734	Destabilizing	1.0	D	0.848	deleterious	D	0.604611688	None	None	I
G/E	0.942	likely_pathogenic	0.949	pathogenic	-0.913	Destabilizing	1.0	D	0.825	deleterious	None	None	None	None	I
G/F	0.9789	likely_pathogenic	0.9807	pathogenic	-1.155	Destabilizing	1.0	D	0.835	deleterious	None	None	None	None	I
G/H	0.9704	likely_pathogenic	0.9739	pathogenic	-0.511	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/I	0.9775	likely_pathogenic	0.9831	pathogenic	-0.553	Destabilizing	1.0	D	0.839	deleterious	None	None	None	None	I
G/K	0.9638	likely_pathogenic	0.9701	pathogenic	-0.728	Destabilizing	1.0	D	0.825	deleterious	None	None	None	None	I
G/L	0.9766	likely_pathogenic	0.9794	pathogenic	-0.553	Destabilizing	1.0	D	0.826	deleterious	None	None	None	None	I
G/M	0.9845	likely_pathogenic	0.9866	pathogenic	-0.48	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/N	0.9427	likely_pathogenic	0.9467	pathogenic	-0.412	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/P	0.9984	likely_pathogenic	0.9987	pathogenic	-0.442	Destabilizing	1.0	D	0.85	deleterious	None	None	None	None	I
G/Q	0.9501	likely_pathogenic	0.9556	pathogenic	-0.745	Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	I
G/R	0.9068	likely_pathogenic	0.9204	pathogenic	-0.251	Destabilizing	1.0	D	0.855	deleterious	D	0.621468626	None	None	I
G/S	0.6195	likely_pathogenic	0.6562	pathogenic	-0.504	Destabilizing	1.0	D	0.801	deleterious	D	0.595123297	None	None	I
G/T	0.9273	likely_pathogenic	0.9373	pathogenic	-0.626	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	I
G/V	0.9492	likely_pathogenic	0.9605	pathogenic	-0.442	Destabilizing	1.0	D	0.829	deleterious	D	0.654112761	None	None	I
G/W	0.9697	likely_pathogenic	0.9724	pathogenic	-1.266	Destabilizing	1.0	D	0.806	deleterious	None	None	None	None	I
G/Y	0.9699	likely_pathogenic	0.9721	pathogenic	-0.932	Destabilizing	1.0	D	0.833	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.