TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33581	100966;100967;100968	chr2:178536006;178536005;178536004	chr2:179400733;179400732;179400731
N2AB	31940	96043;96044;96045	chr2:178536006;178536005;178536004	chr2:179400733;179400732;179400731
N2A	31013	93262;93263;93264	chr2:178536006;178536005;178536004	chr2:179400733;179400732;179400731
N2B	24516	73771;73772;73773	chr2:178536006;178536005;178536004	chr2:179400733;179400732;179400731
Novex-1	24641	74146;74147;74148	chr2:178536006;178536005;178536004	chr2:179400733;179400732;179400731
Novex-2	24708	74347;74348;74349	chr2:178536006;178536005;178536004	chr2:179400733;179400732;179400731
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-158
• Domain position: 86
• Structural Position: 169
• Q(SASA): 0.1362
• Predicted PPI site: N

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/A	None	None	0.012	N	0.267	0.164	0.17948927462	gnomAD-4.0.0	4.29775E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.54965E-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	0.1095	likely_benign	0.1351	benign	-0.409	Destabilizing	0.012	N	0.267	neutral	N	0.357893359	None	None	N
G/C	0.3314	likely_benign	0.4143	ambiguous	-0.685	Destabilizing	0.999	D	0.752	deleterious	N	0.397473254	None	None	N
G/D	0.6912	likely_pathogenic	0.7072	pathogenic	-0.639	Destabilizing	0.985	D	0.77	deleterious	N	0.459599149	None	None	N
G/E	0.6606	likely_pathogenic	0.69	pathogenic	-0.638	Destabilizing	0.986	D	0.763	deleterious	None	None	None	None	N
G/F	0.8765	likely_pathogenic	0.8926	pathogenic	-0.626	Destabilizing	0.996	D	0.784	deleterious	None	None	None	None	N
G/H	0.7864	likely_pathogenic	0.8174	pathogenic	-1.104	Destabilizing	1.0	D	0.714	prob.delet.	None	None	None	None	N
G/I	0.618	likely_pathogenic	0.6831	pathogenic	0.149	Stabilizing	0.992	D	0.789	deleterious	None	None	None	None	N
G/K	0.8006	likely_pathogenic	0.8147	pathogenic	-0.855	Destabilizing	0.986	D	0.755	deleterious	None	None	None	None	N
G/L	0.7186	likely_pathogenic	0.7765	pathogenic	0.149	Stabilizing	0.971	D	0.733	prob.delet.	None	None	None	None	N
G/M	0.7035	likely_pathogenic	0.7817	pathogenic	-0.029	Destabilizing	0.934	D	0.73	prob.delet.	None	None	None	None	N
G/N	0.6178	likely_pathogenic	0.7004	pathogenic	-0.649	Destabilizing	0.996	D	0.742	deleterious	None	None	None	None	N
G/P	0.9969	likely_pathogenic	0.9971	pathogenic	0.008	Stabilizing	0.995	D	0.749	deleterious	None	None	None	None	N
G/Q	0.6292	likely_pathogenic	0.6895	pathogenic	-0.702	Destabilizing	0.998	D	0.762	deleterious	None	None	None	None	N
G/R	0.6769	likely_pathogenic	0.7065	pathogenic	-0.731	Destabilizing	0.994	D	0.749	deleterious	N	0.422158268	None	None	N
G/S	0.1274	likely_benign	0.1756	benign	-0.989	Destabilizing	0.108	N	0.487	neutral	N	0.354605125	None	None	N
G/T	0.2587	likely_benign	0.3253	benign	-0.879	Destabilizing	0.477	N	0.622	neutral	None	None	None	None	N
G/V	0.4247	ambiguous	0.5031	ambiguous	0.008	Stabilizing	0.963	D	0.741	deleterious	N	0.423350347	None	None	N
G/W	0.8869	likely_pathogenic	0.9068	pathogenic	-1.096	Destabilizing	1.0	D	0.719	prob.delet.	None	None	None	None	N
G/Y	0.8297	likely_pathogenic	0.857	pathogenic	-0.57	Destabilizing	0.999	D	0.777	deleterious	None	None	None	None	N

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.