TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6523	19792;19793;19794	chr2:178728257;178728256;178728255	chr2:179592984;179592983;179592982
N2AB	6206	18841;18842;18843	chr2:178728257;178728256;178728255	chr2:179592984;179592983;179592982
N2A	5279	16060;16061;16062	chr2:178728257;178728256;178728255	chr2:179592984;179592983;179592982
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: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-49
• Domain position: 43
• Structural Position: 70
• Q(SASA): 0.7617
• Predicted PPI site: I

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/A	rs1560756818	None	None	N	0.087	0.109	0.0986583533028	gnomAD-4.0.0	2.73774E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	4.63854E-05	0
T/P	None	None	0.301	N	0.317	0.272	0.250579442822	gnomAD-4.0.0	6.84435E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.99675E-07	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	0.0604	likely_benign	0.062	benign	-0.304	Destabilizing	None	N	0.087	neutral	N	0.420176756	None	None	I
T/C	0.3189	likely_benign	0.3618	ambiguous	-0.318	Destabilizing	0.667	D	0.271	neutral	None	None	None	None	I
T/D	0.1663	likely_benign	0.1887	benign	0.424	Stabilizing	None	N	0.138	neutral	None	None	None	None	I
T/E	0.1731	likely_benign	0.2029	benign	0.347	Stabilizing	0.055	N	0.277	neutral	None	None	None	None	I
T/F	0.1529	likely_benign	0.1753	benign	-0.908	Destabilizing	0.124	N	0.44	neutral	None	None	None	None	I
T/G	0.1333	likely_benign	0.1472	benign	-0.398	Destabilizing	None	N	0.111	neutral	None	None	None	None	I
T/H	0.156	likely_benign	0.1761	benign	-0.685	Destabilizing	0.001	N	0.198	neutral	None	None	None	None	I
T/I	0.1392	likely_benign	0.1624	benign	-0.181	Destabilizing	0.175	N	0.319	neutral	N	0.477590263	None	None	I
T/K	0.1444	likely_benign	0.1687	benign	-0.2	Destabilizing	0.081	N	0.279	neutral	N	0.449267512	None	None	I
T/L	0.083	likely_benign	0.0896	benign	-0.181	Destabilizing	0.055	N	0.306	neutral	None	None	None	None	I
T/M	0.0944	likely_benign	0.103	benign	-0.12	Destabilizing	0.667	D	0.262	neutral	None	None	None	None	I
T/N	0.0773	likely_benign	0.0829	benign	-0.063	Destabilizing	0.055	N	0.151	neutral	None	None	None	None	I
T/P	0.0673	likely_benign	0.0677	benign	-0.195	Destabilizing	0.301	N	0.317	neutral	N	0.422504985	None	None	I
T/Q	0.1551	likely_benign	0.1767	benign	-0.234	Destabilizing	0.22	N	0.373	neutral	None	None	None	None	I
T/R	0.1167	likely_benign	0.1346	benign	-0.017	Destabilizing	0.175	N	0.317	neutral	N	0.465487758	None	None	I
T/S	0.0722	likely_benign	0.0772	benign	-0.273	Destabilizing	0.001	N	0.075	neutral	N	0.373574887	None	None	I
T/V	0.1121	likely_benign	0.1257	benign	-0.195	Destabilizing	0.055	N	0.153	neutral	None	None	None	None	I
T/W	0.4086	ambiguous	0.4566	ambiguous	-0.949	Destabilizing	0.883	D	0.323	neutral	None	None	None	None	I
T/Y	0.1645	likely_benign	0.184	benign	-0.631	Destabilizing	0.001	N	0.207	neutral	None	None	None	None	I

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.