TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3884	11875;11876;11877	chr2:178741583;178741582;178741581	chr2:179606310;179606309;179606308
N2AB	3567	10924;10925;10926	chr2:178741583;178741582;178741581	chr2:179606310;179606309;179606308
N2A	None	None	chr2:None	chr2:None
N2B	3521	10786;10787;10788	chr2:178741583;178741582;178741581	chr2:179606310;179606309;179606308
Novex-1	3646	11161;11162;11163	chr2:178741583;178741582;178741581	chr2:179606310;179606309;179606308
Novex-2	3713	11362;11363;11364	chr2:178741583;178741582;178741581	chr2:179606310;179606309;179606308
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: L
• RefSeq wild type transcript codon: TTG
• RefSeq wild type template codon: AAC
• Domain: Ig-27
• Domain position: 65
• Structural Position: 146
• Q(SASA): 0.8033
• 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
L/W	rs2082489145	None	0.196	N	0.274	0.039	None	gnomAD-4.0.0	1.59118E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85807E-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
L/A	0.0902	likely_benign	0.0948	benign	-0.766	Destabilizing	0.002	N	0.179	neutral	None	None	None	None	N
L/C	0.291	likely_benign	0.2887	benign	-0.515	Destabilizing	0.245	N	0.191	neutral	None	None	None	None	N
L/D	0.2731	likely_benign	0.2727	benign	-0.538	Destabilizing	0.009	N	0.259	neutral	None	None	None	None	N
L/E	0.1363	likely_benign	0.1386	benign	-0.616	Destabilizing	None	N	0.138	neutral	None	None	None	None	N
L/F	0.0922	likely_benign	0.0852	benign	-0.712	Destabilizing	None	N	0.035	neutral	N	0.457087054	None	None	N
L/G	0.2073	likely_benign	0.212	benign	-0.954	Destabilizing	0.009	N	0.24	neutral	None	None	None	None	N
L/H	0.1115	likely_benign	0.107	benign	-0.219	Destabilizing	0.138	N	0.317	neutral	None	None	None	None	N
L/I	0.0721	likely_benign	0.0698	benign	-0.375	Destabilizing	None	N	0.08	neutral	None	None	None	None	N
L/K	0.1094	likely_benign	0.1052	benign	-0.507	Destabilizing	None	N	0.099	neutral	None	None	None	None	N
L/M	0.0816	likely_benign	0.0838	benign	-0.426	Destabilizing	0.001	N	0.167	neutral	N	0.456699293	None	None	N
L/N	0.1668	likely_benign	0.1609	benign	-0.237	Destabilizing	0.022	N	0.347	neutral	None	None	None	None	N
L/P	0.0793	likely_benign	0.0807	benign	-0.473	Destabilizing	0.044	N	0.389	neutral	None	None	None	None	N
L/Q	0.0737	likely_benign	0.074	benign	-0.472	Destabilizing	0.044	N	0.357	neutral	None	None	None	None	N
L/R	0.081	likely_benign	0.0841	benign	0.085	Stabilizing	0.022	N	0.308	neutral	None	None	None	None	N
L/S	0.0957	likely_benign	0.0952	benign	-0.646	Destabilizing	None	N	0.075	neutral	N	0.456036179	None	None	N
L/T	0.0937	likely_benign	0.0938	benign	-0.62	Destabilizing	0.009	N	0.249	neutral	None	None	None	None	N
L/V	0.0738	likely_benign	0.0729	benign	-0.473	Destabilizing	None	N	0.034	neutral	N	0.453938688	None	None	N
L/W	0.1052	likely_benign	0.1061	benign	-0.744	Destabilizing	0.196	N	0.274	neutral	N	0.450571937	None	None	N
L/Y	0.1814	likely_benign	0.1799	benign	-0.505	Destabilizing	None	N	0.12	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.