TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9444	28555;28556;28557	chr2:178710767;178710766;178710765	chr2:179575494;179575493;179575492
N2AB	9127	27604;27605;27606	chr2:178710767;178710766;178710765	chr2:179575494;179575493;179575492
N2A	8200	24823;24824;24825	chr2:178710767;178710766;178710765	chr2:179575494;179575493;179575492
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-80
• Domain position: 48
• Structural Position: 122
• Q(SASA): 0.4471
• 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/R	None	None	0.27	None	0.3	0.165	0.229924730088	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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	0.2915	likely_benign	0.382	ambiguous	-0.568	Destabilizing	0.495	N	0.375	neutral	None	None	None	None	I
Q/C	0.689	likely_pathogenic	0.8163	pathogenic	0.06	Stabilizing	0.995	D	0.45	neutral	None	None	None	None	I
Q/D	0.4551	ambiguous	0.5309	ambiguous	0.093	Stabilizing	0.329	N	0.271	neutral	None	None	None	None	I
Q/E	0.1184	likely_benign	0.1093	benign	0.126	Stabilizing	0.27	N	0.267	neutral	None	None	None	None	I
Q/F	0.7008	likely_pathogenic	0.8116	pathogenic	-0.524	Destabilizing	0.981	D	0.446	neutral	None	None	None	None	I
Q/G	0.3702	ambiguous	0.4754	ambiguous	-0.837	Destabilizing	0.003	N	0.286	neutral	None	None	None	None	I
Q/H	0.1807	likely_benign	0.2442	benign	-0.731	Destabilizing	0.927	D	0.38	neutral	None	None	None	None	I
Q/I	0.3733	ambiguous	0.4585	ambiguous	0.08	Stabilizing	0.944	D	0.437	neutral	None	None	None	None	I
Q/K	0.0874	likely_benign	0.0963	benign	0.015	Stabilizing	0.001	N	0.147	neutral	None	None	None	None	I
Q/L	0.1635	likely_benign	0.2084	benign	0.08	Stabilizing	0.642	D	0.423	neutral	None	None	None	None	I
Q/M	0.3842	ambiguous	0.4799	ambiguous	0.511	Stabilizing	0.981	D	0.387	neutral	None	None	None	None	I
Q/N	0.2825	likely_benign	0.38	ambiguous	-0.434	Destabilizing	0.031	N	0.128	neutral	None	None	None	None	I
Q/P	0.6551	likely_pathogenic	0.7561	pathogenic	-0.107	Destabilizing	0.784	D	0.455	neutral	None	None	None	None	I
Q/R	0.0859	likely_benign	0.1067	benign	0.09	Stabilizing	0.27	N	0.3	neutral	None	None	None	None	I
Q/S	0.2603	likely_benign	0.3878	ambiguous	-0.558	Destabilizing	0.495	N	0.27	neutral	None	None	None	None	I
Q/T	0.1961	likely_benign	0.2651	benign	-0.338	Destabilizing	0.704	D	0.389	neutral	None	None	None	None	I
Q/V	0.2689	likely_benign	0.3423	ambiguous	-0.107	Destabilizing	0.828	D	0.434	neutral	None	None	None	None	I
Q/W	0.5825	likely_pathogenic	0.7053	pathogenic	-0.362	Destabilizing	0.995	D	0.454	neutral	None	None	None	None	I
Q/Y	0.479	ambiguous	0.6198	pathogenic	-0.145	Destabilizing	0.981	D	0.423	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.