TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5269	16030;16031;16032	chr2:178733488;178733487;178733486	chr2:179598215;179598214;179598213
N2AB	4952	15079;15080;15081	chr2:178733488;178733487;178733486	chr2:179598215;179598214;179598213
N2A	4025	12298;12299;12300	chr2:178733488;178733487;178733486	chr2:179598215;179598214;179598213
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: L
• RefSeq wild type transcript codon: CTG
• RefSeq wild type template codon: GAC
• Domain: Ig-36
• Domain position: 9
• Structural Position: 11
• Q(SASA): 0.7229
• Predicted PPI site: I

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/P	None	None	0.927	N	0.418	0.289	0.449379577644	gnomAD-4.0.0	7.53545E-06	None	None	None	None	I	None	0	2.24155E-05	None	0	0	None	0	0	9.00494E-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	0.1763	likely_benign	0.1339	benign	-0.644	Destabilizing	0.329	N	0.306	neutral	None	None	None	None	I
L/C	0.4721	ambiguous	0.3696	ambiguous	-0.555	Destabilizing	0.017	N	0.263	neutral	None	None	None	None	I
L/D	0.3964	ambiguous	0.2961	benign	-0.28	Destabilizing	0.007	N	0.27	neutral	None	None	None	None	I
L/E	0.2193	likely_benign	0.168	benign	-0.373	Destabilizing	0.543	D	0.443	neutral	None	None	None	None	I
L/F	0.1328	likely_benign	0.1006	benign	-0.658	Destabilizing	0.017	N	0.216	neutral	None	None	None	None	I
L/G	0.3496	ambiguous	0.2734	benign	-0.813	Destabilizing	0.704	D	0.42	neutral	None	None	None	None	I
L/H	0.1696	likely_benign	0.1199	benign	-0.159	Destabilizing	0.995	D	0.355	neutral	None	None	None	None	I
L/I	0.0945	likely_benign	0.0788	benign	-0.32	Destabilizing	0.329	N	0.267	neutral	None	None	None	None	I
L/K	0.1841	likely_benign	0.1327	benign	-0.382	Destabilizing	0.704	D	0.435	neutral	None	None	None	None	I
L/M	0.0991	likely_benign	0.0898	benign	-0.388	Destabilizing	0.139	N	0.235	neutral	N	0.439411894	None	None	I
L/N	0.1966	likely_benign	0.1428	benign	-0.134	Destabilizing	0.893	D	0.448	neutral	None	None	None	None	I
L/P	0.1309	likely_benign	0.1	benign	-0.395	Destabilizing	0.927	D	0.418	neutral	N	0.34509106	None	None	I
L/Q	0.1143	likely_benign	0.089	benign	-0.371	Destabilizing	0.927	D	0.378	neutral	N	0.447881192	None	None	I
L/R	0.1519	likely_benign	0.114	benign	0.164	Stabilizing	0.927	D	0.386	neutral	N	0.448229931	None	None	I
L/S	0.1964	likely_benign	0.1361	benign	-0.558	Destabilizing	0.037	N	0.193	neutral	None	None	None	None	I
L/T	0.1637	likely_benign	0.1202	benign	-0.544	Destabilizing	0.543	D	0.311	neutral	None	None	None	None	I
L/V	0.0894	likely_benign	0.0779	benign	-0.395	Destabilizing	0.006	N	0.173	neutral	N	0.417533058	None	None	I
L/W	0.2158	likely_benign	0.1532	benign	-0.683	Destabilizing	0.995	D	0.338	neutral	None	None	None	None	I
L/Y	0.2812	likely_benign	0.2004	benign	-0.43	Destabilizing	0.807	D	0.36	neutral	None	None	None	None	I

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.