TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17289	52090;52091;52092	chr2:178609445;178609444;178609443	chr2:179474172;179474171;179474170
N2AB	15648	47167;47168;47169	chr2:178609445;178609444;178609443	chr2:179474172;179474171;179474170
N2A	14721	44386;44387;44388	chr2:178609445;178609444;178609443	chr2:179474172;179474171;179474170
N2B	8224	24895;24896;24897	chr2:178609445;178609444;178609443	chr2:179474172;179474171;179474170
Novex-1	8349	25270;25271;25272	chr2:178609445;178609444;178609443	chr2:179474172;179474171;179474170
Novex-2	8416	25471;25472;25473	chr2:178609445;178609444;178609443	chr2:179474172;179474171;179474170
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: V
• RefSeq wild type transcript codon: GTA
• RefSeq wild type template codon: CAT
• Domain: Ig-112
• Domain position: 39
• Structural Position: 69
• Q(SASA): 0.0928
• 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
V/A	None	None	0.001	N	0.39	0.091	0.18274738541	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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
V/A	0.1108	likely_benign	0.1098	benign	-0.724	Destabilizing	0.001	N	0.39	neutral	N	0.447515286	None	None	N
V/C	0.4392	ambiguous	0.439	ambiguous	-0.951	Destabilizing	0.245	N	0.725	prob.delet.	None	None	None	None	N
V/D	0.199	likely_benign	0.1998	benign	-0.738	Destabilizing	0.018	N	0.72	prob.delet.	None	None	None	None	N
V/E	0.1268	likely_benign	0.1281	benign	-0.788	Destabilizing	0.003	N	0.681	prob.neutral	N	0.447341927	None	None	N
V/F	0.1006	likely_benign	0.1081	benign	-0.678	Destabilizing	0.044	N	0.712	prob.delet.	None	None	None	None	N
V/G	0.1486	likely_benign	0.1519	benign	-0.907	Destabilizing	0.014	N	0.718	prob.delet.	N	0.448902152	None	None	N
V/H	0.1908	likely_benign	0.1938	benign	-0.234	Destabilizing	0.245	N	0.773	deleterious	None	None	None	None	N
V/I	0.0709	likely_benign	0.072	benign	-0.356	Destabilizing	None	N	0.175	neutral	N	0.449075511	None	None	N
V/K	0.0961	likely_benign	0.0978	benign	-0.783	Destabilizing	None	N	0.521	neutral	None	None	None	None	N
V/L	0.1056	likely_benign	0.108	benign	-0.356	Destabilizing	None	N	0.382	neutral	N	0.419272679	None	None	N
V/M	0.112	likely_benign	0.1147	benign	-0.656	Destabilizing	0.138	N	0.655	neutral	None	None	None	None	N
V/N	0.1287	likely_benign	0.1288	benign	-0.736	Destabilizing	0.018	N	0.72	prob.delet.	None	None	None	None	N
V/P	0.2548	likely_benign	0.2329	benign	-0.446	Destabilizing	0.085	N	0.713	prob.delet.	None	None	None	None	N
V/Q	0.1087	likely_benign	0.1093	benign	-0.897	Destabilizing	0.001	N	0.567	neutral	None	None	None	None	N
V/R	0.0838	likely_benign	0.0867	benign	-0.248	Destabilizing	None	N	0.531	neutral	None	None	None	None	N
V/S	0.108	likely_benign	0.1072	benign	-1.088	Destabilizing	0.004	N	0.681	prob.neutral	None	None	None	None	N
V/T	0.0902	likely_benign	0.0866	benign	-1.03	Destabilizing	None	N	0.175	neutral	None	None	None	None	N
V/W	0.4962	ambiguous	0.5429	ambiguous	-0.778	Destabilizing	None	N	0.649	neutral	None	None	None	None	N
V/Y	0.2427	likely_benign	0.2628	benign	-0.502	Destabilizing	0.044	N	0.705	prob.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.