TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7706	23341;23342;23343	chr2:178720646;178720645;178720644	chr2:179585373;179585372;179585371
N2AB	7389	22390;22391;22392	chr2:178720646;178720645;178720644	chr2:179585373;179585372;179585371
N2A	6462	19609;19610;19611	chr2:178720646;178720645;178720644	chr2:179585373;179585372;179585371
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-62
• Domain position: 5
• Structural Position: 5
• Q(SASA): 0.7208
• Predicted PPI site: N

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	0.001	N	0.083	0.136	0.178374595973	gnomAD-4.0.0	4.80129E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.25001E-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	0.2009	likely_benign	0.2037	benign	-0.395	Destabilizing	0.3	N	0.232	neutral	None	None	None	None	N
Q/C	0.5175	ambiguous	0.4919	ambiguous	0.21	Stabilizing	0.995	D	0.325	neutral	None	None	None	None	N
Q/D	0.3776	ambiguous	0.3638	ambiguous	-0.199	Destabilizing	0.495	N	0.163	neutral	None	None	None	None	N
Q/E	0.0889	likely_benign	0.085	benign	-0.182	Destabilizing	0.139	N	0.117	neutral	N	0.457159063	None	None	N
Q/F	0.607	likely_pathogenic	0.5969	pathogenic	-0.313	Destabilizing	0.981	D	0.373	neutral	None	None	None	None	N
Q/G	0.2102	likely_benign	0.212	benign	-0.669	Destabilizing	0.495	N	0.339	neutral	None	None	None	None	N
Q/H	0.1644	likely_benign	0.1562	benign	-0.569	Destabilizing	0.975	D	0.221	neutral	N	0.520498466	None	None	N
Q/I	0.3345	likely_benign	0.3157	benign	0.263	Stabilizing	0.944	D	0.448	neutral	None	None	None	None	N
Q/K	0.0671	likely_benign	0.0653	benign	-0.182	Destabilizing	0.001	N	0.079	neutral	N	0.400342988	None	None	N
Q/L	0.1348	likely_benign	0.1323	benign	0.263	Stabilizing	0.425	N	0.339	neutral	N	0.490348917	None	None	N
Q/M	0.343	ambiguous	0.3385	benign	0.634	Stabilizing	0.981	D	0.23	neutral	None	None	None	None	N
Q/N	0.2759	likely_benign	0.2661	benign	-0.486	Destabilizing	0.495	N	0.162	neutral	None	None	None	None	N
Q/P	0.4428	ambiguous	0.4781	ambiguous	0.074	Stabilizing	0.784	D	0.347	neutral	N	0.508377317	None	None	N
Q/R	0.0727	likely_benign	0.0725	benign	-0.032	Destabilizing	0.001	N	0.083	neutral	N	0.436783791	None	None	N
Q/S	0.2276	likely_benign	0.2322	benign	-0.531	Destabilizing	0.495	N	0.163	neutral	None	None	None	None	N
Q/T	0.1815	likely_benign	0.1751	benign	-0.343	Destabilizing	0.495	N	0.294	neutral	None	None	None	None	N
Q/V	0.215	likely_benign	0.2072	benign	0.074	Stabilizing	0.828	D	0.355	neutral	None	None	None	None	N
Q/W	0.4224	ambiguous	0.4094	ambiguous	-0.232	Destabilizing	0.995	D	0.322	neutral	None	None	None	None	N
Q/Y	0.3865	ambiguous	0.3811	ambiguous	-0.026	Destabilizing	0.981	D	0.376	neutral	None	None	None	None	N

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.