TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9606	29041;29042;29043	chr2:178707751;178707750;178707749	chr2:179572478;179572477;179572476
N2AB	9289	28090;28091;28092	chr2:178707751;178707750;178707749	chr2:179572478;179572477;179572476
N2A	8362	25309;25310;25311	chr2:178707751;178707750;178707749	chr2:179572478;179572477;179572476
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: Y
• RefSeq wild type transcript codon: TAC
• RefSeq wild type template codon: ATG
• Domain: Ig-82
• Domain position: 17
• Structural Position: 26
• Q(SASA): 0.5449
• 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
Y/C	rs1408526622	None	0.103	None	0.228	0.064	0.370240404367	gnomAD-4.0.0	1.59119E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85817E-06	0	0
Y/H	None	None	0.032	None	0.32	0.168	0.270447802918	gnomAD-4.0.0	2.05259E-06	None	None	None	None	N	None	5.9755E-05	0	None	0	0	None	0	0	8.99465E-07	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
Y/A	0.1089	likely_benign	0.1294	benign	-1.796	Destabilizing	None	N	0.205	neutral	None	None	None	None	N
Y/C	0.1063	likely_benign	0.1059	benign	-0.66	Destabilizing	0.103	N	0.228	neutral	None	None	None	None	N
Y/D	0.0966	likely_benign	0.0964	benign	-0.385	Destabilizing	0.001	N	0.301	neutral	None	None	None	None	N
Y/E	0.2524	likely_benign	0.2581	benign	-0.324	Destabilizing	None	N	0.14	neutral	None	None	None	None	N
Y/F	0.0577	likely_benign	0.0611	benign	-0.683	Destabilizing	None	N	0.108	neutral	None	None	None	None	N
Y/G	0.1284	likely_benign	0.1438	benign	-2.08	Highly Destabilizing	None	N	0.159	neutral	None	None	None	None	N
Y/H	0.1041	likely_benign	0.1098	benign	-0.511	Destabilizing	0.032	N	0.32	neutral	None	None	None	None	N
Y/I	0.1264	likely_benign	0.137	benign	-0.963	Destabilizing	None	N	0.171	neutral	None	None	None	None	N
Y/K	0.2147	likely_benign	0.2263	benign	-0.92	Destabilizing	None	N	0.118	neutral	None	None	None	None	N
Y/L	0.2048	likely_benign	0.2293	benign	-0.963	Destabilizing	0.001	N	0.249	neutral	None	None	None	None	N
Y/M	0.2327	likely_benign	0.2462	benign	-0.733	Destabilizing	0.021	N	0.327	neutral	None	None	None	None	N
Y/N	0.0533	likely_benign	0.0642	benign	-1.281	Destabilizing	0.001	N	0.318	neutral	None	None	None	None	N
Y/P	0.2734	likely_benign	0.2748	benign	-1.232	Destabilizing	0.009	N	0.339	neutral	None	None	None	None	N
Y/Q	0.1992	likely_benign	0.2073	benign	-1.19	Destabilizing	0.009	N	0.295	neutral	None	None	None	None	N
Y/R	0.163	likely_benign	0.1638	benign	-0.513	Destabilizing	0.004	N	0.311	neutral	None	None	None	None	N
Y/S	0.056	likely_benign	0.0705	benign	-1.733	Destabilizing	None	N	0.136	neutral	None	None	None	None	N
Y/T	0.0888	likely_benign	0.1115	benign	-1.581	Destabilizing	None	N	0.12	neutral	None	None	None	None	N
Y/V	0.1092	likely_benign	0.1227	benign	-1.232	Destabilizing	0.001	N	0.245	neutral	None	None	None	None	N
Y/W	0.2723	likely_benign	0.2371	benign	-0.41	Destabilizing	0.132	N	0.319	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.