TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27239	81940;81941;81942	chr2:178564417;178564416;178564415	chr2:179429144;179429143;179429142
N2AB	25598	77017;77018;77019	chr2:178564417;178564416;178564415	chr2:179429144;179429143;179429142
N2A	24671	74236;74237;74238	chr2:178564417;178564416;178564415	chr2:179429144;179429143;179429142
N2B	18174	54745;54746;54747	chr2:178564417;178564416;178564415	chr2:179429144;179429143;179429142
Novex-1	18299	55120;55121;55122	chr2:178564417;178564416;178564415	chr2:179429144;179429143;179429142
Novex-2	18366	55321;55322;55323	chr2:178564417;178564416;178564415	chr2:179429144;179429143;179429142
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Fn3-86
• Domain position: 70
• Structural Position: 102
• Q(SASA): 0.1477
• 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	0.001	N	0.109	0.106	0.191931220699	gnomAD-4.0.0	1.59268E-06	None	None	None	None	N	None	0	0	None	0	0	None	1.88466E-05	0	0	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	0.2658	likely_benign	0.2501	benign	-0.725	Destabilizing	0.129	N	0.317	neutral	None	None	None	None	N
Q/C	0.6001	likely_pathogenic	0.5524	ambiguous	-0.077	Destabilizing	0.001	N	0.225	neutral	None	None	None	None	N
Q/D	0.4862	ambiguous	0.4127	ambiguous	-1.252	Destabilizing	0.129	N	0.282	neutral	None	None	None	None	N
Q/E	0.1131	likely_benign	0.0996	benign	-1.099	Destabilizing	0.001	N	0.109	neutral	N	0.438999298	None	None	N
Q/F	0.7977	likely_pathogenic	0.7661	pathogenic	-0.282	Destabilizing	0.94	D	0.481	neutral	None	None	None	None	N
Q/G	0.2701	likely_benign	0.2491	benign	-1.137	Destabilizing	0.228	N	0.324	neutral	None	None	None	None	N
Q/H	0.2591	likely_benign	0.2388	benign	-1.069	Destabilizing	0.794	D	0.377	neutral	N	0.462396233	None	None	N
Q/I	0.5967	likely_pathogenic	0.574	pathogenic	0.359	Stabilizing	0.836	D	0.525	neutral	None	None	None	None	N
Q/K	0.1214	likely_benign	0.1034	benign	-0.596	Destabilizing	0.101	N	0.309	neutral	N	0.437479145	None	None	N
Q/L	0.2397	likely_benign	0.2338	benign	0.359	Stabilizing	0.183	N	0.348	neutral	N	0.493199142	None	None	N
Q/M	0.4237	ambiguous	0.4231	ambiguous	0.826	Stabilizing	0.94	D	0.381	neutral	None	None	None	None	N
Q/N	0.3044	likely_benign	0.2657	benign	-1.224	Destabilizing	0.01	N	0.135	neutral	None	None	None	None	N
Q/P	0.9215	likely_pathogenic	0.8873	pathogenic	0.028	Stabilizing	0.002	N	0.212	neutral	N	0.49360087	None	None	N
Q/R	0.1419	likely_benign	0.1222	benign	-0.644	Destabilizing	0.351	N	0.339	neutral	N	0.449810937	None	None	N
Q/S	0.2611	likely_benign	0.2449	benign	-1.303	Destabilizing	0.129	N	0.268	neutral	None	None	None	None	N
Q/T	0.2718	likely_benign	0.2624	benign	-0.958	Destabilizing	0.228	N	0.349	neutral	None	None	None	None	N
Q/V	0.3826	ambiguous	0.3732	ambiguous	0.028	Stabilizing	0.418	N	0.346	neutral	None	None	None	None	N
Q/W	0.77	likely_pathogenic	0.723	pathogenic	-0.276	Destabilizing	0.983	D	0.442	neutral	None	None	None	None	N
Q/Y	0.576	likely_pathogenic	0.5285	ambiguous	0.002	Stabilizing	0.94	D	0.421	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.