TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5012	15259;15260;15261	chr2:178734890;178734889;178734888	chr2:179599617;179599616;179599615
N2AB	4695	14308;14309;14310	chr2:178734890;178734889;178734888	chr2:179599617;179599616;179599615
N2A	3768	11527;11528;11529	chr2:178734890;178734889;178734888	chr2:179599617;179599616;179599615
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-33
• Domain position: 32
• Structural Position: 45
• Q(SASA): 0.7899
• 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	0.002	N	0.151	0.36	0.213573922156	gnomAD-4.0.0	1.5922E-06	None	None	None	None	I	None	0	0	None	0	2.78102E-05	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	0.2657	likely_benign	0.3041	benign	-0.13	Destabilizing	0.495	N	0.431	neutral	None	None	None	None	I
Q/C	0.7144	likely_pathogenic	0.6508	pathogenic	-0.004	Destabilizing	0.995	D	0.503	neutral	None	None	None	None	I
Q/D	0.308	likely_benign	0.4052	ambiguous	0.15	Stabilizing	0.828	D	0.397	neutral	None	None	None	None	I
Q/E	0.0741	likely_benign	0.0852	benign	0.163	Stabilizing	0.425	N	0.315	neutral	N	0.445094729	None	None	I
Q/F	0.7354	likely_pathogenic	0.7544	pathogenic	-0.228	Destabilizing	0.944	D	0.527	neutral	None	None	None	None	I
Q/G	0.3267	likely_benign	0.3557	ambiguous	-0.353	Destabilizing	0.828	D	0.503	neutral	None	None	None	None	I
Q/H	0.1518	likely_benign	0.1642	benign	-0.124	Destabilizing	0.002	N	0.151	neutral	N	0.469072116	None	None	I
Q/I	0.4576	ambiguous	0.4989	ambiguous	0.375	Stabilizing	0.981	D	0.539	neutral	None	None	None	None	I
Q/K	0.0804	likely_benign	0.0847	benign	0.091	Stabilizing	0.01	N	0.159	neutral	N	0.397342756	None	None	I
Q/L	0.1842	likely_benign	0.2026	benign	0.375	Stabilizing	0.642	D	0.504	neutral	N	0.508656087	None	None	I
Q/M	0.4347	ambiguous	0.4758	ambiguous	0.341	Stabilizing	0.981	D	0.516	neutral	None	None	None	None	I
Q/N	0.2452	likely_benign	0.3007	benign	-0.404	Destabilizing	0.704	D	0.403	neutral	None	None	None	None	I
Q/P	0.4729	ambiguous	0.5391	ambiguous	0.236	Stabilizing	0.917	D	0.562	neutral	N	0.513449635	None	None	I
Q/R	0.0891	likely_benign	0.0861	benign	0.204	Stabilizing	0.023	N	0.171	neutral	N	0.433740247	None	None	I
Q/S	0.261	likely_benign	0.3041	benign	-0.387	Destabilizing	0.495	N	0.411	neutral	None	None	None	None	I
Q/T	0.1899	likely_benign	0.2262	benign	-0.204	Destabilizing	0.828	D	0.493	neutral	None	None	None	None	I
Q/V	0.3229	likely_benign	0.3658	ambiguous	0.236	Stabilizing	0.828	D	0.567	neutral	None	None	None	None	I
Q/W	0.5409	ambiguous	0.5268	ambiguous	-0.22	Destabilizing	0.995	D	0.509	neutral	None	None	None	None	I
Q/Y	0.4728	ambiguous	0.4765	ambiguous	0.058	Stabilizing	0.704	D	0.571	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.