TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18434	55525;55526;55527	chr2:178601884;178601883;178601882	chr2:179466611;179466610;179466609
N2AB	16793	50602;50603;50604	chr2:178601884;178601883;178601882	chr2:179466611;179466610;179466609
N2A	15866	47821;47822;47823	chr2:178601884;178601883;178601882	chr2:179466611;179466610;179466609
N2B	9369	28330;28331;28332	chr2:178601884;178601883;178601882	chr2:179466611;179466610;179466609
Novex-1	9494	28705;28706;28707	chr2:178601884;178601883;178601882	chr2:179466611;179466610;179466609
Novex-2	9561	28906;28907;28908	chr2:178601884;178601883;178601882	chr2:179466611;179466610;179466609
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-115
• Domain position: 53
• Structural Position: 122
• Q(SASA): 0.6158
• 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
Q/E	None	None	0.309	N	0.435	0.074	0.222439326576	gnomAD-4.0.0	1.59882E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.8665E-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
Q/A	0.2017	likely_benign	0.1903	benign	-0.476	Destabilizing	0.373	N	0.456	neutral	None	None	None	None	N
Q/C	0.4772	ambiguous	0.4444	ambiguous	0.009	Stabilizing	0.996	D	0.487	neutral	None	None	None	None	N
Q/D	0.3276	likely_benign	0.3431	ambiguous	-0.381	Destabilizing	0.742	D	0.488	neutral	None	None	None	None	N
Q/E	0.0921	likely_benign	0.0905	benign	-0.302	Destabilizing	0.309	N	0.435	neutral	N	0.441898822	None	None	N
Q/F	0.4729	ambiguous	0.4322	ambiguous	-0.164	Destabilizing	0.91	D	0.497	neutral	None	None	None	None	N
Q/G	0.306	likely_benign	0.2979	benign	-0.816	Destabilizing	0.742	D	0.507	neutral	None	None	None	None	N
Q/H	0.1527	likely_benign	0.1442	benign	-0.641	Destabilizing	0.939	D	0.549	neutral	N	0.486287104	None	None	N
Q/I	0.189	likely_benign	0.1727	benign	0.38	Stabilizing	0.59	D	0.495	neutral	None	None	None	None	N
Q/K	0.0846	likely_benign	0.0845	benign	-0.407	Destabilizing	0.003	N	0.218	neutral	N	0.474893888	None	None	N
Q/L	0.1002	likely_benign	0.0945	benign	0.38	Stabilizing	0.309	N	0.467	neutral	N	0.512164197	None	None	N
Q/M	0.2541	likely_benign	0.2348	benign	0.631	Stabilizing	0.953	D	0.554	neutral	None	None	None	None	N
Q/N	0.2492	likely_benign	0.2383	benign	-0.896	Destabilizing	0.742	D	0.509	neutral	None	None	None	None	N
Q/P	0.4575	ambiguous	0.508	ambiguous	0.127	Stabilizing	0.815	D	0.527	neutral	D	0.523805343	None	None	N
Q/R	0.0983	likely_benign	0.0967	benign	-0.339	Destabilizing	0.521	D	0.493	neutral	N	0.467583914	None	None	N
Q/S	0.2014	likely_benign	0.1916	benign	-0.93	Destabilizing	0.543	D	0.491	neutral	None	None	None	None	N
Q/T	0.1327	likely_benign	0.1255	benign	-0.666	Destabilizing	0.742	D	0.509	neutral	None	None	None	None	N
Q/V	0.1289	likely_benign	0.1195	benign	0.127	Stabilizing	0.009	N	0.299	neutral	None	None	None	None	N
Q/W	0.4362	ambiguous	0.4286	ambiguous	-0.089	Destabilizing	0.996	D	0.509	neutral	None	None	None	None	N
Q/Y	0.3393	likely_benign	0.317	benign	0.125	Stabilizing	0.953	D	0.545	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.