TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5332	16219;16220;16221	chr2:178733299;178733298;178733297	chr2:179598026;179598025;179598024
N2AB	5015	15268;15269;15270	chr2:178733299;178733298;178733297	chr2:179598026;179598025;179598024
N2A	4088	12487;12488;12489	chr2:178733299;178733298;178733297	chr2:179598026;179598025;179598024
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-36
• Domain position: 72
• Structural Position: 155
• Q(SASA): 0.1465
• 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/I	rs1232516805	None	0.051	N	0.514	0.262	0.313210971179	gnomAD-4.0.0	4.10644E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.39809E-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	0.095	likely_benign	0.1053	benign	-1.36	Destabilizing	0.454	N	0.497	neutral	N	0.487980739	None	None	N
T/C	0.4163	ambiguous	0.4347	ambiguous	-0.946	Destabilizing	0.998	D	0.653	neutral	None	None	None	None	N
T/D	0.5554	ambiguous	0.6072	pathogenic	-1.337	Destabilizing	0.842	D	0.664	neutral	None	None	None	None	N
T/E	0.4263	ambiguous	0.4603	ambiguous	-1.13	Destabilizing	0.842	D	0.642	neutral	None	None	None	None	N
T/F	0.2497	likely_benign	0.2701	benign	-1.018	Destabilizing	0.974	D	0.641	neutral	None	None	None	None	N
T/G	0.3181	likely_benign	0.3499	ambiguous	-1.767	Destabilizing	0.728	D	0.639	neutral	None	None	None	None	N
T/H	0.2329	likely_benign	0.2474	benign	-1.743	Destabilizing	0.991	D	0.642	neutral	None	None	None	None	N
T/I	0.1362	likely_benign	0.1331	benign	-0.285	Destabilizing	0.051	N	0.514	neutral	N	0.512931335	None	None	N
T/K	0.1881	likely_benign	0.1882	benign	-0.416	Destabilizing	0.022	N	0.389	neutral	N	0.499828752	None	None	N
T/L	0.1129	likely_benign	0.1132	benign	-0.285	Destabilizing	0.525	D	0.611	neutral	None	None	None	None	N
T/M	0.0948	likely_benign	0.1011	benign	-0.317	Destabilizing	0.974	D	0.666	neutral	None	None	None	None	N
T/N	0.1628	likely_benign	0.1786	benign	-1.07	Destabilizing	0.842	D	0.629	neutral	None	None	None	None	N
T/P	0.7864	likely_pathogenic	0.8083	pathogenic	-0.614	Destabilizing	0.966	D	0.695	prob.neutral	N	0.515581649	None	None	N
T/Q	0.2474	likely_benign	0.2577	benign	-0.882	Destabilizing	0.949	D	0.692	prob.neutral	None	None	None	None	N
T/R	0.1343	likely_benign	0.1398	benign	-0.618	Destabilizing	0.012	N	0.507	neutral	N	0.455847153	None	None	N
T/S	0.1157	likely_benign	0.1316	benign	-1.375	Destabilizing	0.051	N	0.305	neutral	N	0.442743318	None	None	N
T/V	0.1279	likely_benign	0.1265	benign	-0.614	Destabilizing	0.525	D	0.585	neutral	None	None	None	None	N
T/W	0.6129	likely_pathogenic	0.6644	pathogenic	-1.075	Destabilizing	0.998	D	0.663	neutral	None	None	None	None	N
T/Y	0.2953	likely_benign	0.32	benign	-0.724	Destabilizing	0.991	D	0.639	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.