TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4615	14068;14069;14070	chr2:178739390;178739389;178739388	chr2:179604117;179604116;179604115
N2AB	4298	13117;13118;13119	chr2:178739390;178739389;178739388	chr2:179604117;179604116;179604115
N2A	None	None	chr2:None	chr2:None
N2B	4252	12979;12980;12981	chr2:178739390;178739389;178739388	chr2:179604117;179604116;179604115
Novex-1	4377	13354;13355;13356	chr2:178739390;178739389;178739388	chr2:179604117;179604116;179604115
Novex-2	4444	13555;13556;13557	chr2:178739390;178739389;178739388	chr2:179604117;179604116;179604115
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-29
• Domain position: 10
• Structural Position: 13
• Q(SASA): 0.2634
• 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/A	rs751677635	-0.959	None	N	0.099	0.112	0.0297737177859	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.9E-06	0
T/A	rs751677635	-0.959	None	N	0.099	0.112	0.0297737177859	gnomAD-4.0.0	1.36838E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.7989E-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	0.0805	likely_benign	0.0933	benign	-0.707	Destabilizing	None	N	0.099	neutral	N	0.507271038	None	None	N
T/C	0.3301	likely_benign	0.3845	ambiguous	-0.445	Destabilizing	0.667	D	0.482	neutral	None	None	None	None	N
T/D	0.2883	likely_benign	0.3599	ambiguous	0.02	Stabilizing	0.124	N	0.5	neutral	None	None	None	None	N
T/E	0.2082	likely_benign	0.2668	benign	0.011	Stabilizing	0.22	N	0.457	neutral	None	None	None	None	N
T/F	0.1654	likely_benign	0.2076	benign	-0.846	Destabilizing	0.497	N	0.529	neutral	None	None	None	None	N
T/G	0.2514	likely_benign	0.3086	benign	-0.951	Destabilizing	0.055	N	0.449	neutral	None	None	None	None	N
T/H	0.1907	likely_benign	0.2275	benign	-1.289	Destabilizing	0.667	D	0.494	neutral	None	None	None	None	N
T/I	0.0928	likely_benign	0.1152	benign	-0.156	Destabilizing	None	N	0.209	neutral	N	0.484742717	None	None	N
T/K	0.1309	likely_benign	0.1621	benign	-0.641	Destabilizing	0.22	N	0.456	neutral	None	None	None	None	N
T/L	0.0848	likely_benign	0.1024	benign	-0.156	Destabilizing	None	N	0.199	neutral	None	None	None	None	N
T/M	0.078	likely_benign	0.0891	benign	0.083	Stabilizing	0.497	N	0.497	neutral	None	None	None	None	N
T/N	0.1238	likely_benign	0.1531	benign	-0.546	Destabilizing	0.001	N	0.307	neutral	D	0.583699543	None	None	N
T/P	0.3852	ambiguous	0.4595	ambiguous	-0.307	Destabilizing	0.602	D	0.519	neutral	D	0.6475337	None	None	N
T/Q	0.1933	likely_benign	0.2333	benign	-0.695	Destabilizing	0.667	D	0.496	neutral	None	None	None	None	N
T/R	0.1063	likely_benign	0.1232	benign	-0.472	Destabilizing	0.497	N	0.519	neutral	None	None	None	None	N
T/S	0.1184	likely_benign	0.1438	benign	-0.83	Destabilizing	0.042	N	0.39	neutral	D	0.581594621	None	None	N
T/V	0.0916	likely_benign	0.1149	benign	-0.307	Destabilizing	None	N	0.119	neutral	None	None	None	None	N
T/W	0.4898	ambiguous	0.551	ambiguous	-0.79	Destabilizing	0.958	D	0.521	neutral	None	None	None	None	N
T/Y	0.2105	likely_benign	0.2608	benign	-0.544	Destabilizing	0.667	D	0.506	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.