TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5232	15919;15920;15921	chr2:178733695;178733694;178733693	chr2:179598422;179598421;179598420
N2AB	4915	14968;14969;14970	chr2:178733695;178733694;178733693	chr2:179598422;179598421;179598420
N2A	3988	12187;12188;12189	chr2:178733695;178733694;178733693	chr2:179598422;179598421;179598420
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: I
• RefSeq wild type transcript codon: ATT
• RefSeq wild type template codon: TAA
• Domain: Ig-35
• Domain position: 65
• Structural Position: 146
• Q(SASA): 0.5041
• 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
I/L	None	None	None	N	0.079	0.046	0.253205268125	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	0	3.66327E-05

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
I/A	0.1354	likely_benign	0.1458	benign	-0.611	Destabilizing	0.129	N	0.296	neutral	None	None	None	None	I
I/C	0.4409	ambiguous	0.5029	ambiguous	-0.796	Destabilizing	0.951	D	0.275	neutral	None	None	None	None	I
I/D	0.2571	likely_benign	0.2947	benign	0.025	Stabilizing	0.716	D	0.369	neutral	None	None	None	None	I
I/E	0.2216	likely_benign	0.2504	benign	-0.049	Destabilizing	0.418	N	0.372	neutral	None	None	None	None	I
I/F	0.0904	likely_benign	0.1042	benign	-0.526	Destabilizing	0.351	N	0.252	neutral	N	0.436124265	None	None	I
I/G	0.2541	likely_benign	0.2767	benign	-0.775	Destabilizing	0.418	N	0.365	neutral	None	None	None	None	I
I/H	0.223	likely_benign	0.2753	benign	-0.015	Destabilizing	0.005	N	0.307	neutral	None	None	None	None	I
I/K	0.1517	likely_benign	0.18	benign	-0.385	Destabilizing	0.418	N	0.363	neutral	None	None	None	None	I
I/L	0.0741	likely_benign	0.0776	benign	-0.295	Destabilizing	None	N	0.079	neutral	N	0.392287144	None	None	I
I/M	0.0699	likely_benign	0.0732	benign	-0.491	Destabilizing	0.017	N	0.146	neutral	N	0.449154812	None	None	I
I/N	0.0929	likely_benign	0.1038	benign	-0.281	Destabilizing	0.487	N	0.368	neutral	N	0.45079585	None	None	I
I/P	0.1878	likely_benign	0.2163	benign	-0.368	Destabilizing	0.94	D	0.371	neutral	None	None	None	None	I
I/Q	0.1826	likely_benign	0.2107	benign	-0.446	Destabilizing	0.716	D	0.363	neutral	None	None	None	None	I
I/R	0.1274	likely_benign	0.1538	benign	0.11	Stabilizing	0.716	D	0.37	neutral	None	None	None	None	I
I/S	0.1108	likely_benign	0.1208	benign	-0.766	Destabilizing	0.351	N	0.351	neutral	N	0.399488706	None	None	I
I/T	0.1202	likely_benign	0.1271	benign	-0.727	Destabilizing	0.351	N	0.304	neutral	N	0.427135201	None	None	I
I/V	0.0705	likely_benign	0.0726	benign	-0.368	Destabilizing	0.001	N	0.114	neutral	N	0.42028959	None	None	I
I/W	0.4805	ambiguous	0.546	ambiguous	-0.544	Destabilizing	0.983	D	0.335	neutral	None	None	None	None	I
I/Y	0.2375	likely_benign	0.2781	benign	-0.307	Destabilizing	0.557	D	0.306	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.