TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	21139	63640;63641;63642	chr2:178587992;178587991;178587990	chr2:179452719;179452718;179452717
N2AB	19498	58717;58718;58719	chr2:178587992;178587991;178587990	chr2:179452719;179452718;179452717
N2A	18571	55936;55937;55938	chr2:178587992;178587991;178587990	chr2:179452719;179452718;179452717
N2B	12074	36445;36446;36447	chr2:178587992;178587991;178587990	chr2:179452719;179452718;179452717
Novex-1	12199	36820;36821;36822	chr2:178587992;178587991;178587990	chr2:179452719;179452718;179452717
Novex-2	12266	37021;37022;37023	chr2:178587992;178587991;178587990	chr2:179452719;179452718;179452717
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: Fn3-41
• Domain position: 76
• Structural Position: 102
• Q(SASA): 0.1651
• 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	rs1576042907	None	0.669	N	0.389	0.092	0.146414634003	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	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	0.1992	likely_benign	0.2011	benign	-0.833	Destabilizing	0.688	D	0.369	neutral	None	None	None	None	N
Q/C	0.479	ambiguous	0.4681	ambiguous	-0.112	Destabilizing	0.998	D	0.533	neutral	None	None	None	None	N
Q/D	0.407	ambiguous	0.372	ambiguous	-1.111	Destabilizing	0.728	D	0.358	neutral	None	None	None	None	N
Q/E	0.0848	likely_benign	0.0784	benign	-0.933	Destabilizing	0.012	N	0.111	neutral	N	0.439807374	None	None	N
Q/F	0.6705	likely_pathogenic	0.6564	pathogenic	-0.28	Destabilizing	0.949	D	0.557	neutral	None	None	None	None	N
Q/G	0.2847	likely_benign	0.2761	benign	-1.265	Destabilizing	0.842	D	0.429	neutral	None	None	None	None	N
Q/H	0.235	likely_benign	0.2275	benign	-1.068	Destabilizing	0.966	D	0.43	neutral	N	0.470476998	None	None	N
Q/I	0.2928	likely_benign	0.3018	benign	0.316	Stabilizing	0.728	D	0.497	neutral	None	None	None	None	N
Q/K	0.0902	likely_benign	0.0913	benign	-0.625	Destabilizing	0.051	N	0.149	neutral	N	0.430206456	None	None	N
Q/L	0.1254	likely_benign	0.1304	benign	0.316	Stabilizing	0.005	N	0.169	neutral	N	0.449563008	None	None	N
Q/M	0.2661	likely_benign	0.2687	benign	0.759	Stabilizing	0.949	D	0.444	neutral	None	None	None	None	N
Q/N	0.3219	likely_benign	0.3065	benign	-1.27	Destabilizing	0.842	D	0.433	neutral	None	None	None	None	N
Q/P	0.7545	likely_pathogenic	0.7167	pathogenic	-0.037	Destabilizing	0.966	D	0.493	neutral	N	0.486688336	None	None	N
Q/R	0.0983	likely_benign	0.0974	benign	-0.698	Destabilizing	0.669	D	0.389	neutral	N	0.454928756	None	None	N
Q/S	0.2549	likely_benign	0.2419	benign	-1.41	Destabilizing	0.842	D	0.314	neutral	None	None	None	None	N
Q/T	0.1579	likely_benign	0.1567	benign	-1.034	Destabilizing	0.842	D	0.397	neutral	None	None	None	None	N
Q/V	0.1782	likely_benign	0.1835	benign	-0.037	Destabilizing	0.728	D	0.399	neutral	None	None	None	None	N
Q/W	0.5619	ambiguous	0.5465	ambiguous	-0.25	Destabilizing	0.998	D	0.515	neutral	None	None	None	None	N
Q/Y	0.4774	ambiguous	0.4585	ambiguous	0.01	Stabilizing	0.991	D	0.497	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.