TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	16110	48553;48554;48555	chr2:178615773;178615772;178615771	chr2:179480500;179480499;179480498
N2AB	14469	43630;43631;43632	chr2:178615773;178615772;178615771	chr2:179480500;179480499;179480498
N2A	13542	40849;40850;40851	chr2:178615773;178615772;178615771	chr2:179480500;179480499;179480498
N2B	7045	21358;21359;21360	chr2:178615773;178615772;178615771	chr2:179480500;179480499;179480498
Novex-1	7170	21733;21734;21735	chr2:178615773;178615772;178615771	chr2:179480500;179480499;179480498
Novex-2	7237	21934;21935;21936	chr2:178615773;178615772;178615771	chr2:179480500;179480499;179480498
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Fn3-4
• Domain position: 56
• Structural Position: 83
• Q(SASA): 0.6307
• 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
T/S	None	None	0.002	N	0.086	0.109	0.101711395817	gnomAD-4.0.0	1.59685E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86773E-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
T/A	0.0719	likely_benign	0.0861	benign	-0.541	Destabilizing	0.012	N	0.119	neutral	N	0.470506047	None	None	N
T/C	0.3164	likely_benign	0.4094	ambiguous	-0.453	Destabilizing	0.901	D	0.245	neutral	None	None	None	None	N
T/D	0.248	likely_benign	0.2968	benign	0.578	Stabilizing	0.296	N	0.27	neutral	None	None	None	None	N
T/E	0.1896	likely_benign	0.2146	benign	0.549	Stabilizing	0.08	N	0.249	neutral	None	None	None	None	N
T/F	0.2515	likely_benign	0.2943	benign	-0.942	Destabilizing	0.296	N	0.397	neutral	None	None	None	None	N
T/G	0.1607	likely_benign	0.2063	benign	-0.702	Destabilizing	0.08	N	0.25	neutral	None	None	None	None	N
T/H	0.1948	likely_benign	0.2364	benign	-0.733	Destabilizing	0.749	D	0.297	neutral	None	None	None	None	N
T/I	0.1666	likely_benign	0.1961	benign	-0.224	Destabilizing	None	N	0.108	neutral	N	0.479612614	None	None	N
T/K	0.1378	likely_benign	0.1514	benign	-0.21	Destabilizing	0.08	N	0.283	neutral	None	None	None	None	N
T/L	0.0876	likely_benign	0.101	benign	-0.224	Destabilizing	None	N	0.082	neutral	None	None	None	None	N
T/M	0.0904	likely_benign	0.1	benign	-0.31	Destabilizing	0.016	N	0.141	neutral	None	None	None	None	N
T/N	0.0913	likely_benign	0.1052	benign	-0.189	Destabilizing	0.137	N	0.173	neutral	N	0.455436093	None	None	N
T/P	0.0728	likely_benign	0.085	benign	-0.3	Destabilizing	0.001	N	0.128	neutral	N	0.464698064	None	None	N
T/Q	0.1627	likely_benign	0.1862	benign	-0.289	Destabilizing	0.007	N	0.094	neutral	None	None	None	None	N
T/R	0.1336	likely_benign	0.1435	benign	0.038	Stabilizing	0.296	N	0.295	neutral	None	None	None	None	N
T/S	0.0857	likely_benign	0.1042	benign	-0.498	Destabilizing	0.002	N	0.086	neutral	N	0.468632191	None	None	N
T/V	0.1239	likely_benign	0.1433	benign	-0.3	Destabilizing	None	N	0.047	neutral	None	None	None	None	N
T/W	0.508	ambiguous	0.5457	ambiguous	-0.943	Destabilizing	0.972	D	0.284	neutral	None	None	None	None	N
T/Y	0.2437	likely_benign	0.2867	benign	-0.644	Destabilizing	0.46	N	0.381	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.