TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6450	19573;19574;19575	chr2:178728578;178728577;178728576	chr2:179593305;179593304;179593303
N2AB	6133	18622;18623;18624	chr2:178728578;178728577;178728576	chr2:179593305;179593304;179593303
N2A	5206	15841;15842;15843	chr2:178728578;178728577;178728576	chr2:179593305;179593304;179593303
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-48
• Domain position: 66
• Structural Position: 148
• Q(SASA): 0.5368
• 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/E	None	None	0.001	N	0.077	0.102	0.0551355673512	gnomAD-4.0.0	2.73794E-06	None	None	None	None	N	None	0	0	None	0	2.52551E-05	None	0	0	2.69902E-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	0.1502	likely_benign	0.1466	benign	-0.157	Destabilizing	0.3	N	0.157	neutral	None	None	None	None	N
Q/C	0.7749	likely_pathogenic	0.7452	pathogenic	0.172	Stabilizing	0.995	D	0.246	neutral	None	None	None	None	N
Q/D	0.2037	likely_benign	0.1773	benign	-0.014	Destabilizing	0.003	N	0.121	neutral	None	None	None	None	N
Q/E	0.0556	likely_benign	0.052	benign	-0.045	Destabilizing	0.001	N	0.077	neutral	N	0.342514822	None	None	N
Q/F	0.698	likely_pathogenic	0.6739	pathogenic	-0.418	Destabilizing	0.007	N	0.177	neutral	None	None	None	None	N
Q/G	0.1744	likely_benign	0.1641	benign	-0.33	Destabilizing	0.495	N	0.211	neutral	None	None	None	None	N
Q/H	0.2263	likely_benign	0.205	benign	-0.148	Destabilizing	0.927	D	0.198	neutral	N	0.449205144	None	None	N
Q/I	0.4028	ambiguous	0.3784	ambiguous	0.207	Stabilizing	0.704	D	0.351	neutral	None	None	None	None	N
Q/K	0.0947	likely_benign	0.0856	benign	0.085	Stabilizing	0.139	N	0.136	neutral	N	0.436043845	None	None	N
Q/L	0.1389	likely_benign	0.1332	benign	0.207	Stabilizing	0.27	N	0.211	neutral	N	0.480450771	None	None	N
Q/M	0.3343	likely_benign	0.3295	benign	0.34	Stabilizing	0.981	D	0.217	neutral	None	None	None	None	N
Q/N	0.1889	likely_benign	0.1808	benign	-0.175	Destabilizing	0.495	N	0.121	neutral	None	None	None	None	N
Q/P	0.1229	likely_benign	0.1137	benign	0.113	Stabilizing	0.784	D	0.297	neutral	N	0.467790904	None	None	N
Q/R	0.1183	likely_benign	0.1104	benign	0.28	Stabilizing	0.425	N	0.129	neutral	N	0.423730696	None	None	N
Q/S	0.1729	likely_benign	0.1723	benign	-0.178	Destabilizing	0.176	N	0.125	neutral	None	None	None	None	N
Q/T	0.1693	likely_benign	0.1612	benign	-0.061	Destabilizing	0.013	N	0.103	neutral	None	None	None	None	N
Q/V	0.2472	likely_benign	0.2409	benign	0.113	Stabilizing	0.495	N	0.233	neutral	None	None	None	None	N
Q/W	0.5219	ambiguous	0.48	ambiguous	-0.439	Destabilizing	0.995	D	0.24	neutral	None	None	None	None	N
Q/Y	0.4656	ambiguous	0.4426	ambiguous	-0.165	Destabilizing	0.543	D	0.281	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.