TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8424	25495;25496;25497	chr2:178717604;178717603;178717602	chr2:179582331;179582330;179582329
N2AB	8107	24544;24545;24546	chr2:178717604;178717603;178717602	chr2:179582331;179582330;179582329
N2A	7180	21763;21764;21765	chr2:178717604;178717603;178717602	chr2:179582331;179582330;179582329
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: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-69
• Domain position: 65
• Structural Position: 146
• Q(SASA): 0.72
• 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
Q/E	rs370668637	0.573	0.011	N	0.15	0.033	None	gnomAD-3.1.2	6.57E-06	None	None	None	None	I	None	0	0	0	0	0	None	0	0	1.47E-05	0	0
Q/E	rs370668637	0.573	0.011	N	0.15	0.033	None	gnomAD-4.0.0	3.40963E-05	None	None	None	None	I	None	0	0	None	0	0	None	0	0	4.66283E-05	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	0.1484	likely_benign	0.1357	benign	-0.34	Destabilizing	0.001	N	0.107	neutral	None	None	None	None	I
Q/C	0.5467	ambiguous	0.4987	ambiguous	0.069	Stabilizing	0.727	D	0.245	neutral	None	None	None	None	I
Q/D	0.2331	likely_benign	0.2175	benign	0.141	Stabilizing	0.048	N	0.22	neutral	None	None	None	None	I
Q/E	0.0829	likely_benign	0.0791	benign	0.151	Stabilizing	0.011	N	0.15	neutral	N	0.398245101	None	None	I
Q/F	0.4767	ambiguous	0.4422	ambiguous	-0.438	Destabilizing	0.186	N	0.398	neutral	None	None	None	None	I
Q/G	0.1915	likely_benign	0.1748	benign	-0.567	Destabilizing	0.036	N	0.275	neutral	None	None	None	None	I
Q/H	0.1351	likely_benign	0.1275	benign	-0.305	Destabilizing	None	N	0.15	neutral	N	0.464374092	None	None	I
Q/I	0.2679	likely_benign	0.2417	benign	0.18	Stabilizing	0.014	N	0.3	neutral	None	None	None	None	I
Q/K	0.0626	likely_benign	0.0584	benign	0.018	Stabilizing	None	N	0.076	neutral	N	0.360092144	None	None	I
Q/L	0.1122	likely_benign	0.1054	benign	0.18	Stabilizing	None	N	0.116	neutral	N	0.377195038	None	None	I
Q/M	0.2679	likely_benign	0.2393	benign	0.329	Stabilizing	0.003	N	0.092	neutral	None	None	None	None	I
Q/N	0.1923	likely_benign	0.1837	benign	-0.424	Destabilizing	0.025	N	0.185	neutral	None	None	None	None	I
Q/P	0.0958	likely_benign	0.0918	benign	0.036	Stabilizing	None	N	0.131	neutral	N	0.366479399	None	None	I
Q/R	0.0741	likely_benign	0.0705	benign	0.173	Stabilizing	0.016	N	0.213	neutral	N	0.382102212	None	None	I
Q/S	0.1577	likely_benign	0.1438	benign	-0.447	Destabilizing	0.036	N	0.143	neutral	None	None	None	None	I
Q/T	0.1502	likely_benign	0.1327	benign	-0.264	Destabilizing	0.003	N	0.249	neutral	None	None	None	None	I
Q/V	0.1932	likely_benign	0.1724	benign	0.036	Stabilizing	None	N	0.125	neutral	None	None	None	None	I
Q/W	0.3886	ambiguous	0.3259	benign	-0.399	Destabilizing	0.93	D	0.215	neutral	None	None	None	None	I
Q/Y	0.2957	likely_benign	0.2741	benign	-0.147	Destabilizing	0.102	N	0.34	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.