TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9181	27766;27767;27768	chr2:178712381;178712380;178712379	chr2:179577108;179577107;179577106
N2AB	8864	26815;26816;26817	chr2:178712381;178712380;178712379	chr2:179577108;179577107;179577106
N2A	7937	24034;24035;24036	chr2:178712381;178712380;178712379	chr2:179577108;179577107;179577106
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: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-77
• Domain position: 70
• Structural Position: 153
• Q(SASA): 0.4454
• 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/P	rs758826201	-0.048	0.006	N	0.231	0.351	0.32580497728	gnomAD-2.1.1	8.03E-06	None	None	None	None	N	None	0	5.8E-05	None	0	0	None	0	None	0	0	0
Q/P	rs758826201	-0.048	0.006	N	0.231	0.351	0.32580497728	gnomAD-4.0.0	3.18237E-06	None	None	None	None	N	None	0	4.57268E-05	None	0	0	None	0	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	0.1964	likely_benign	0.179	benign	-0.423	Destabilizing	0.3	N	0.325	neutral	None	None	None	None	N
Q/C	0.5836	likely_pathogenic	0.4697	ambiguous	0.08	Stabilizing	0.995	D	0.505	neutral	None	None	None	None	N
Q/D	0.2967	likely_benign	0.257	benign	-0.91	Destabilizing	0.329	N	0.291	neutral	None	None	None	None	N
Q/E	0.0732	likely_benign	0.0679	benign	-0.87	Destabilizing	0.002	N	0.155	neutral	N	0.446861925	None	None	N
Q/F	0.4758	ambiguous	0.4148	ambiguous	-0.502	Destabilizing	0.893	D	0.549	neutral	None	None	None	None	N
Q/G	0.2928	likely_benign	0.2421	benign	-0.71	Destabilizing	0.665	D	0.391	neutral	None	None	None	None	N
Q/H	0.1661	likely_benign	0.1426	benign	-0.85	Destabilizing	0.927	D	0.405	neutral	N	0.51331899	None	None	N
Q/I	0.2108	likely_benign	0.188	benign	0.273	Stabilizing	0.543	D	0.504	neutral	None	None	None	None	N
Q/K	0.0878	likely_benign	0.0805	benign	-0.161	Destabilizing	0.01	N	0.143	neutral	N	0.442762827	None	None	N
Q/L	0.1027	likely_benign	0.0923	benign	0.273	Stabilizing	0.002	N	0.3	neutral	N	0.465565116	None	None	N
Q/M	0.2698	likely_benign	0.2442	benign	0.865	Stabilizing	0.893	D	0.403	neutral	None	None	None	None	N
Q/N	0.2167	likely_benign	0.1915	benign	-0.69	Destabilizing	0.704	D	0.281	neutral	None	None	None	None	N
Q/P	0.1703	likely_benign	0.1542	benign	0.072	Stabilizing	0.006	N	0.231	neutral	N	0.488085866	None	None	N
Q/R	0.0997	likely_benign	0.088	benign	-0.05	Destabilizing	0.023	N	0.163	neutral	N	0.446016563	None	None	N
Q/S	0.2212	likely_benign	0.1994	benign	-0.681	Destabilizing	0.329	N	0.299	neutral	None	None	None	None	N
Q/T	0.1561	likely_benign	0.147	benign	-0.466	Destabilizing	0.013	N	0.226	neutral	None	None	None	None	N
Q/V	0.1608	likely_benign	0.1513	benign	0.072	Stabilizing	0.329	N	0.392	neutral	None	None	None	None	N
Q/W	0.3951	ambiguous	0.3053	benign	-0.44	Destabilizing	0.995	D	0.521	neutral	None	None	None	None	N
Q/Y	0.3244	likely_benign	0.2635	benign	-0.145	Destabilizing	0.944	D	0.523	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.