TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19212	57859;57860;57861	chr2:178595720;178595719;178595718	chr2:179460447;179460446;179460445
N2AB	17571	52936;52937;52938	chr2:178595720;178595719;178595718	chr2:179460447;179460446;179460445
N2A	16644	50155;50156;50157	chr2:178595720;178595719;178595718	chr2:179460447;179460446;179460445
N2B	10147	30664;30665;30666	chr2:178595720;178595719;178595718	chr2:179460447;179460446;179460445
Novex-1	10272	31039;31040;31041	chr2:178595720;178595719;178595718	chr2:179460447;179460446;179460445
Novex-2	10339	31240;31241;31242	chr2:178595720;178595719;178595718	chr2:179460447;179460446;179460445
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: Fn3-27
• Domain position: 30
• Structural Position: 31
• Q(SASA): 0.3782
• 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	rs761511119	-0.977	1.0	D	0.86	0.521	0.661108367033	gnomAD-2.1.1	8.33E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	None	0	1.84E-05	0
G/E	rs761511119	-0.977	1.0	D	0.86	0.521	0.661108367033	gnomAD-4.0.0	4.81201E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.62694E-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	0.9698	likely_pathogenic	0.9767	pathogenic	-0.304	Destabilizing	1.0	D	0.741	deleterious	N	0.517932869	None	None	I
G/C	0.9905	likely_pathogenic	0.994	pathogenic	-0.795	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/D	0.9979	likely_pathogenic	0.9983	pathogenic	-0.603	Destabilizing	1.0	D	0.832	deleterious	None	None	None	None	I
G/E	0.9984	likely_pathogenic	0.9988	pathogenic	-0.768	Destabilizing	1.0	D	0.86	deleterious	D	0.528782195	None	None	I
G/F	0.999	likely_pathogenic	0.9993	pathogenic	-1.094	Destabilizing	1.0	D	0.808	deleterious	None	None	None	None	I
G/H	0.9988	likely_pathogenic	0.9993	pathogenic	-0.613	Destabilizing	1.0	D	0.816	deleterious	None	None	None	None	I
G/I	0.9989	likely_pathogenic	0.9992	pathogenic	-0.424	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	I
G/K	0.998	likely_pathogenic	0.9986	pathogenic	-0.744	Destabilizing	1.0	D	0.861	deleterious	None	None	None	None	I
G/L	0.9985	likely_pathogenic	0.9988	pathogenic	-0.424	Destabilizing	1.0	D	0.828	deleterious	None	None	None	None	I
G/M	0.9993	likely_pathogenic	0.9995	pathogenic	-0.354	Destabilizing	1.0	D	0.804	deleterious	None	None	None	None	I
G/N	0.9983	likely_pathogenic	0.9987	pathogenic	-0.358	Destabilizing	1.0	D	0.812	deleterious	None	None	None	None	I
G/P	0.9997	likely_pathogenic	0.9997	pathogenic	-0.35	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	I
G/Q	0.9983	likely_pathogenic	0.9989	pathogenic	-0.665	Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	I
G/R	0.9909	likely_pathogenic	0.9948	pathogenic	-0.301	Destabilizing	1.0	D	0.846	deleterious	N	0.490927844	None	None	I
G/S	0.9672	likely_pathogenic	0.9793	pathogenic	-0.505	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/T	0.9965	likely_pathogenic	0.9972	pathogenic	-0.6	Destabilizing	1.0	D	0.859	deleterious	None	None	None	None	I
G/V	0.9976	likely_pathogenic	0.9982	pathogenic	-0.35	Destabilizing	1.0	D	0.832	deleterious	N	0.507590521	None	None	I
G/W	0.9976	likely_pathogenic	0.9984	pathogenic	-1.248	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	I
G/Y	0.9987	likely_pathogenic	0.9992	pathogenic	-0.885	Destabilizing	1.0	D	0.803	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.