TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7822	23689;23690;23691	chr2:178720178;178720177;178720176	chr2:179584905;179584904;179584903
N2AB	7505	22738;22739;22740	chr2:178720178;178720177;178720176	chr2:179584905;179584904;179584903
N2A	6578	19957;19958;19959	chr2:178720178;178720177;178720176	chr2:179584905;179584904;179584903
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-63
• Domain position: 28
• Structural Position: 42
• Q(SASA): 0.5576
• 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/H	None	None	0.921	N	0.423	0.384	0.358134431457	gnomAD-4.0.0	1.5915E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85873E-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	0.2068	likely_benign	0.1734	benign	-0.156	Destabilizing	0.129	N	0.395	neutral	None	None	None	None	I
Q/C	0.749	likely_pathogenic	0.6765	pathogenic	-0.044	Destabilizing	0.983	D	0.417	neutral	None	None	None	None	I
Q/D	0.3834	ambiguous	0.3521	ambiguous	0.132	Stabilizing	0.129	N	0.381	neutral	None	None	None	None	I
Q/E	0.0809	likely_benign	0.0788	benign	0.12	Stabilizing	0.003	N	0.099	neutral	N	0.438338442	None	None	I
Q/F	0.706	likely_pathogenic	0.6412	pathogenic	-0.37	Destabilizing	0.94	D	0.446	neutral	None	None	None	None	I
Q/G	0.307	likely_benign	0.2688	benign	-0.335	Destabilizing	0.418	N	0.387	neutral	None	None	None	None	I
Q/H	0.2353	likely_benign	0.2085	benign	-0.009	Destabilizing	0.921	D	0.423	neutral	N	0.493290107	None	None	I
Q/I	0.4691	ambiguous	0.4029	ambiguous	0.229	Stabilizing	0.836	D	0.476	neutral	None	None	None	None	I
Q/K	0.1285	likely_benign	0.1204	benign	0.073	Stabilizing	0.183	N	0.415	neutral	N	0.508987819	None	None	I
Q/L	0.141	likely_benign	0.1244	benign	0.229	Stabilizing	0.351	N	0.456	neutral	N	0.491346208	None	None	I
Q/M	0.4345	ambiguous	0.3776	ambiguous	0.168	Stabilizing	0.94	D	0.421	neutral	None	None	None	None	I
Q/N	0.3379	likely_benign	0.2978	benign	-0.341	Destabilizing	0.593	D	0.467	neutral	None	None	None	None	I
Q/P	0.0751	likely_benign	0.0636	benign	0.128	Stabilizing	None	N	0.125	neutral	N	0.364773685	None	None	I
Q/R	0.1342	likely_benign	0.1269	benign	0.279	Stabilizing	0.351	N	0.427	neutral	N	0.492529638	None	None	I
Q/S	0.208	likely_benign	0.1728	benign	-0.341	Destabilizing	0.228	N	0.373	neutral	None	None	None	None	I
Q/T	0.2406	likely_benign	0.2045	benign	-0.198	Destabilizing	0.418	N	0.407	neutral	None	None	None	None	I
Q/V	0.3155	likely_benign	0.2596	benign	0.128	Stabilizing	0.418	N	0.457	neutral	None	None	None	None	I
Q/W	0.605	likely_pathogenic	0.5293	ambiguous	-0.389	Destabilizing	0.983	D	0.444	neutral	None	None	None	None	I
Q/Y	0.5032	ambiguous	0.4347	ambiguous	-0.109	Destabilizing	0.94	D	0.447	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.