TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18317	55174;55175;55176	chr2:178602453;178602452;178602451	chr2:179467180;179467179;179467178
N2AB	16676	50251;50252;50253	chr2:178602453;178602452;178602451	chr2:179467180;179467179;179467178
N2A	15749	47470;47471;47472	chr2:178602453;178602452;178602451	chr2:179467180;179467179;179467178
N2B	9252	27979;27980;27981	chr2:178602453;178602452;178602451	chr2:179467180;179467179;179467178
Novex-1	9377	28354;28355;28356	chr2:178602453;178602452;178602451	chr2:179467180;179467179;179467178
Novex-2	9444	28555;28556;28557	chr2:178602453;178602452;178602451	chr2:179467180;179467179;179467178
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: Fn3-21
• Domain position: 46
• Structural Position: 63
• Q(SASA): 0.8752
• 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	rs1487036474	0.005	0.099	N	0.317	0.053	0.202949470691	gnomAD-2.1.1	4.04E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.91E-06	0
T/A	rs1487036474	0.005	0.099	N	0.317	0.053	0.202949470691	gnomAD-4.0.0	1.59407E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86261E-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	0.0665	likely_benign	0.0648	benign	-0.186	Destabilizing	0.099	N	0.317	neutral	N	0.434748271	None	None	N
T/C	0.327	likely_benign	0.323	benign	-0.242	Destabilizing	0.972	D	0.32	neutral	None	None	None	None	N
T/D	0.2449	likely_benign	0.2339	benign	0.02	Stabilizing	0.617	D	0.32	neutral	None	None	None	None	N
T/E	0.1906	likely_benign	0.1739	benign	-0.072	Destabilizing	0.617	D	0.343	neutral	None	None	None	None	N
T/F	0.2136	likely_benign	0.2324	benign	-0.826	Destabilizing	0.85	D	0.348	neutral	None	None	None	None	N
T/G	0.1471	likely_benign	0.1362	benign	-0.257	Destabilizing	0.25	N	0.303	neutral	None	None	None	None	N
T/H	0.2289	likely_benign	0.2402	benign	-0.419	Destabilizing	0.92	D	0.329	neutral	None	None	None	None	N
T/I	0.1361	likely_benign	0.1451	benign	-0.121	Destabilizing	0.379	N	0.324	neutral	N	0.443791829	None	None	N
T/K	0.1431	likely_benign	0.1438	benign	-0.25	Destabilizing	0.447	N	0.337	neutral	None	None	None	None	N
T/L	0.0869	likely_benign	0.094	benign	-0.121	Destabilizing	0.002	N	0.148	neutral	None	None	None	None	N
T/M	0.0831	likely_benign	0.0903	benign	-0.099	Destabilizing	0.85	D	0.315	neutral	None	None	None	None	N
T/N	0.1012	likely_benign	0.1036	benign	0.018	Stabilizing	0.379	N	0.269	neutral	N	0.387839759	None	None	N
T/P	0.0899	likely_benign	0.0874	benign	-0.118	Destabilizing	0.712	D	0.353	neutral	N	0.428206301	None	None	N
T/Q	0.1806	likely_benign	0.177	benign	-0.211	Destabilizing	0.85	D	0.339	neutral	None	None	None	None	N
T/R	0.1397	likely_benign	0.1469	benign	0.066	Stabilizing	0.617	D	0.343	neutral	None	None	None	None	N
T/S	0.0864	likely_benign	0.0823	benign	-0.155	Destabilizing	0.002	N	0.101	neutral	N	0.405406799	None	None	N
T/V	0.1077	likely_benign	0.1102	benign	-0.118	Destabilizing	0.25	N	0.314	neutral	None	None	None	None	N
T/W	0.4707	ambiguous	0.4966	ambiguous	-0.902	Destabilizing	0.992	D	0.339	neutral	None	None	None	None	N
T/Y	0.2496	likely_benign	0.2674	benign	-0.585	Destabilizing	0.92	D	0.337	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.