TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8563	25912;25913;25914	chr2:178715727;178715726;178715725	chr2:179580454;179580453;179580452
N2AB	8246	24961;24962;24963	chr2:178715727;178715726;178715725	chr2:179580454;179580453;179580452
N2A	7319	22180;22181;22182	chr2:178715727;178715726;178715725	chr2:179580454;179580453;179580452
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-71
• Domain position: 15
• Structural Position: 23
• Q(SASA): 0.5392
• 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	None	None	0.002	N	0.147	0.038	0.126345400529	gnomAD-4.0.0	2.76474E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	3.6242E-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	0.1606	likely_benign	0.1535	benign	-0.491	Destabilizing	0.27	N	0.315	neutral	None	None	None	None	I
Q/C	0.6314	likely_pathogenic	0.5909	pathogenic	0.067	Stabilizing	0.978	D	0.35	neutral	None	None	None	None	I
Q/D	0.4668	ambiguous	0.422	ambiguous	-0.368	Destabilizing	0.212	N	0.26	neutral	None	None	None	None	I
Q/E	0.078	likely_benign	0.0734	benign	-0.324	Destabilizing	0.002	N	0.147	neutral	N	0.370373427	None	None	I
Q/F	0.7387	likely_pathogenic	0.6704	pathogenic	-0.323	Destabilizing	0.777	D	0.381	neutral	None	None	None	None	I
Q/G	0.2295	likely_benign	0.2192	benign	-0.797	Destabilizing	0.641	D	0.402	neutral	None	None	None	None	I
Q/H	0.276	likely_benign	0.2261	benign	-0.686	Destabilizing	0.004	N	0.22	neutral	N	0.455830245	None	None	I
Q/I	0.38	ambiguous	0.3444	ambiguous	0.262	Stabilizing	0.555	D	0.408	neutral	None	None	None	None	I
Q/K	0.0719	likely_benign	0.0676	benign	-0.251	Destabilizing	0.1	N	0.341	neutral	N	0.466038678	None	None	I
Q/L	0.172	likely_benign	0.1495	benign	0.262	Stabilizing	0.1	N	0.37	neutral	N	0.428269724	None	None	I
Q/M	0.3359	likely_benign	0.3139	benign	0.668	Stabilizing	0.06	N	0.234	neutral	None	None	None	None	I
Q/N	0.3421	ambiguous	0.3022	benign	-0.692	Destabilizing	0.349	N	0.231	neutral	None	None	None	None	I
Q/P	0.1464	likely_benign	0.1285	benign	0.042	Stabilizing	0.742	D	0.359	neutral	N	0.476178314	None	None	I
Q/R	0.0896	likely_benign	0.0839	benign	-0.121	Destabilizing	None	N	0.086	neutral	N	0.467193472	None	None	I
Q/S	0.2745	likely_benign	0.2547	benign	-0.747	Destabilizing	0.472	N	0.247	neutral	None	None	None	None	I
Q/T	0.2157	likely_benign	0.1981	benign	-0.521	Destabilizing	0.065	N	0.327	neutral	None	None	None	None	I
Q/V	0.2457	likely_benign	0.229	benign	0.042	Stabilizing	0.097	N	0.381	neutral	None	None	None	None	I
Q/W	0.5827	likely_pathogenic	0.4938	ambiguous	-0.207	Destabilizing	0.995	D	0.37	neutral	None	None	None	None	I
Q/Y	0.5062	ambiguous	0.4343	ambiguous	0.003	Stabilizing	0.777	D	0.345	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.