TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8474	25645;25646;25647	chr2:178717314;178717313;178717312	chr2:179582041;179582040;179582039
N2AB	8157	24694;24695;24696	chr2:178717314;178717313;178717312	chr2:179582041;179582040;179582039
N2A	7230	21913;21914;21915	chr2:178717314;178717313;178717312	chr2:179582041;179582040;179582039
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: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-70
• Domain position: 19
• Structural Position: 29
• Q(SASA): 0.4831
• 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	None	N	0.237	0.062	0.0401082797425	gnomAD-4.0.0	1.5918E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85959E-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	0.0681	likely_benign	0.0703	benign	-0.643	Destabilizing	0.001	N	0.375	neutral	N	0.515278207	None	None	N
T/C	0.2564	likely_benign	0.2501	benign	-0.423	Destabilizing	None	N	0.346	neutral	None	None	None	None	N
T/D	0.2066	likely_benign	0.2022	benign	0.638	Stabilizing	0.008	N	0.41	neutral	None	None	None	None	N
T/E	0.2402	likely_benign	0.2348	benign	0.62	Stabilizing	0.001	N	0.254	neutral	None	None	None	None	N
T/F	0.1511	likely_benign	0.1462	benign	-0.982	Destabilizing	0.639	D	0.547	neutral	None	None	None	None	N
T/G	0.1402	likely_benign	0.1464	benign	-0.838	Destabilizing	0.065	N	0.393	neutral	None	None	None	None	N
T/H	0.1761	likely_benign	0.1777	benign	-1.064	Destabilizing	0.573	D	0.48	neutral	None	None	None	None	N
T/I	0.0956	likely_benign	0.1013	benign	-0.235	Destabilizing	0.066	N	0.453	neutral	N	0.492054631	None	None	N
T/K	0.2318	likely_benign	0.219	benign	-0.234	Destabilizing	0.037	N	0.419	neutral	None	None	None	None	N
T/L	0.0876	likely_benign	0.0875	benign	-0.235	Destabilizing	None	N	0.26	neutral	None	None	None	None	N
T/M	0.0927	likely_benign	0.0956	benign	-0.136	Destabilizing	0.398	N	0.471	neutral	None	None	None	None	N
T/N	0.0753	likely_benign	0.0759	benign	-0.179	Destabilizing	None	N	0.259	neutral	N	0.498847317	None	None	N
T/P	0.2731	likely_benign	0.252	benign	-0.34	Destabilizing	0.03	N	0.477	neutral	N	0.496868283	None	None	N
T/Q	0.1865	likely_benign	0.1879	benign	-0.285	Destabilizing	0.081	N	0.464	neutral	None	None	None	None	N
T/R	0.1826	likely_benign	0.1717	benign	-0.104	Destabilizing	0.335	N	0.469	neutral	None	None	None	None	N
T/S	0.0631	likely_benign	0.062	benign	-0.532	Destabilizing	None	N	0.237	neutral	N	0.446879702	None	None	N
T/V	0.0955	likely_benign	0.0974	benign	-0.34	Destabilizing	0.027	N	0.385	neutral	None	None	None	None	N
T/W	0.4075	ambiguous	0.4144	ambiguous	-0.927	Destabilizing	0.976	D	0.495	neutral	None	None	None	None	N
T/Y	0.166	likely_benign	0.163	benign	-0.645	Destabilizing	0.782	D	0.538	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.