TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6042	18349;18350;18351	chr2:178730276;178730275;178730274	chr2:179595003;179595002;179595001
N2AB	5725	17398;17399;17400	chr2:178730276;178730275;178730274	chr2:179595003;179595002;179595001
N2A	4798	14617;14618;14619	chr2:178730276;178730275;178730274	chr2:179595003;179595002;179595001
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-44
• Domain position: 31
• Structural Position: 45
• Q(SASA): 0.5326
• 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/I	None	None	0.007	N	0.269	0.351	0.388174495139	gnomAD-4.0.0	6.84621E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.9975E-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	0.0737	likely_benign	0.0756	benign	-0.604	Destabilizing	0.001	N	0.121	neutral	D	0.526266858	None	None	I
T/C	0.4475	ambiguous	0.3931	ambiguous	-0.334	Destabilizing	0.951	D	0.517	neutral	None	None	None	None	I
T/D	0.2725	likely_benign	0.271	benign	-0.098	Destabilizing	0.264	N	0.471	neutral	None	None	None	None	I
T/E	0.2191	likely_benign	0.2236	benign	-0.121	Destabilizing	0.264	N	0.453	neutral	None	None	None	None	I
T/F	0.178	likely_benign	0.188	benign	-0.764	Destabilizing	0.836	D	0.569	neutral	None	None	None	None	I
T/G	0.2183	likely_benign	0.2157	benign	-0.834	Destabilizing	0.129	N	0.415	neutral	None	None	None	None	I
T/H	0.1752	likely_benign	0.1711	benign	-1.11	Destabilizing	0.836	D	0.557	neutral	None	None	None	None	I
T/I	0.1108	likely_benign	0.1122	benign	-0.093	Destabilizing	0.007	N	0.269	neutral	N	0.50088743	None	None	I
T/K	0.1523	likely_benign	0.1527	benign	-0.678	Destabilizing	0.213	N	0.448	neutral	N	0.519935531	None	None	I
T/L	0.0879	likely_benign	0.0918	benign	-0.093	Destabilizing	0.129	N	0.404	neutral	None	None	None	None	I
T/M	0.0764	likely_benign	0.0793	benign	0.106	Stabilizing	0.836	D	0.54	neutral	None	None	None	None	I
T/N	0.0789	likely_benign	0.0831	benign	-0.515	Destabilizing	0.01	N	0.24	neutral	None	None	None	None	I
T/P	0.3396	likely_benign	0.3858	ambiguous	-0.231	Destabilizing	0.794	D	0.579	neutral	D	0.531019554	None	None	I
T/Q	0.1543	likely_benign	0.1571	benign	-0.673	Destabilizing	0.022	N	0.263	neutral	None	None	None	None	I
T/R	0.1354	likely_benign	0.1415	benign	-0.426	Destabilizing	0.213	N	0.545	neutral	D	0.525189422	None	None	I
T/S	0.0916	likely_benign	0.0931	benign	-0.746	Destabilizing	0.002	N	0.143	neutral	N	0.487476396	None	None	I
T/V	0.0968	likely_benign	0.0983	benign	-0.231	Destabilizing	0.129	N	0.349	neutral	None	None	None	None	I
T/W	0.5082	ambiguous	0.5278	ambiguous	-0.744	Destabilizing	0.983	D	0.583	neutral	None	None	None	None	I
T/Y	0.2105	likely_benign	0.2157	benign	-0.505	Destabilizing	0.94	D	0.572	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.