TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9345	28258;28259;28260	chr2:178711203;178711202;178711201	chr2:179575930;179575929;179575928
N2AB	9028	27307;27308;27309	chr2:178711203;178711202;178711201	chr2:179575930;179575929;179575928
N2A	8101	24526;24527;24528	chr2:178711203;178711202;178711201	chr2:179575930;179575929;179575928
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: P
• RefSeq wild type transcript codon: CCA
• RefSeq wild type template codon: GGT
• Domain: Ig-79
• Domain position: 45
• Structural Position: 102
• Q(SASA): 0.4105
• 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
P/A	None	None	None	None	0.148	0.045	0.0482279557977	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	None	0	0	None	0	0	0	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
P/A	0.0634	likely_benign	0.0596	benign	-0.338	Destabilizing	None	N	0.148	neutral	None	None	None	None	N
P/C	0.3311	likely_benign	0.3023	benign	-0.682	Destabilizing	0.245	N	0.389	neutral	None	None	None	None	N
P/D	0.1598	likely_benign	0.1696	benign	-0.31	Destabilizing	0.009	N	0.317	neutral	None	None	None	None	N
P/E	0.1315	likely_benign	0.1299	benign	-0.425	Destabilizing	None	N	0.197	neutral	None	None	None	None	N
P/F	0.2512	likely_benign	0.2139	benign	-0.64	Destabilizing	0.022	N	0.477	neutral	None	None	None	None	N
P/G	0.1597	likely_benign	0.1533	benign	-0.43	Destabilizing	None	N	0.142	neutral	None	None	None	None	N
P/H	0.0969	likely_benign	0.094	benign	0.012	Stabilizing	0.138	N	0.425	neutral	None	None	None	None	N
P/I	0.1715	likely_benign	0.1487	benign	-0.244	Destabilizing	0.009	N	0.381	neutral	None	None	None	None	N
P/K	0.1409	likely_benign	0.1481	benign	-0.385	Destabilizing	0.009	N	0.318	neutral	None	None	None	None	N
P/L	0.0927	likely_benign	0.0823	benign	-0.244	Destabilizing	None	N	0.209	neutral	None	None	None	None	N
P/M	0.1972	likely_benign	0.1727	benign	-0.457	Destabilizing	0.138	N	0.383	neutral	None	None	None	None	N
P/N	0.1385	likely_benign	0.1324	benign	-0.164	Destabilizing	None	N	0.192	neutral	None	None	None	None	N
P/Q	0.0864	likely_benign	0.0828	benign	-0.387	Destabilizing	None	N	0.253	neutral	None	None	None	None	N
P/R	0.1022	likely_benign	0.1065	benign	0.102	Stabilizing	0.007	N	0.351	neutral	None	None	None	None	N
P/S	0.0784	likely_benign	0.0721	benign	-0.483	Destabilizing	None	N	0.154	neutral	None	None	None	None	N
P/T	0.0772	likely_benign	0.0724	benign	-0.502	Destabilizing	None	N	0.187	neutral	None	None	None	None	N
P/V	0.1305	likely_benign	0.1169	benign	-0.244	Destabilizing	0.004	N	0.26	neutral	None	None	None	None	N
P/W	0.3276	likely_benign	0.3185	benign	-0.715	Destabilizing	0.55	D	0.383	neutral	None	None	None	None	N
P/Y	0.2045	likely_benign	0.1863	benign	-0.425	Destabilizing	None	N	0.283	neutral	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.