TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31168	93727;93728;93729	chr2:178548124;178548123;178548122	chr2:179412851;179412850;179412849
N2AB	29527	88804;88805;88806	chr2:178548124;178548123;178548122	chr2:179412851;179412850;179412849
N2A	28600	86023;86024;86025	chr2:178548124;178548123;178548122	chr2:179412851;179412850;179412849
N2B	22103	66532;66533;66534	chr2:178548124;178548123;178548122	chr2:179412851;179412850;179412849
Novex-1	22228	66907;66908;66909	chr2:178548124;178548123;178548122	chr2:179412851;179412850;179412849
Novex-2	22295	67108;67109;67110	chr2:178548124;178548123;178548122	chr2:179412851;179412850;179412849
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: Fn3-115
• Domain position: 56
• Structural Position: 88
• Q(SASA): 0.7413
• 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/H	None	None	0.912	N	0.305	0.124	0.214338557667	gnomAD-4.0.0	1.59108E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43271E-05	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	0.1381	likely_benign	0.1562	benign	-0.248	Destabilizing	0.054	N	0.279	neutral	None	None	None	None	N
Q/C	0.4954	ambiguous	0.5596	ambiguous	-0.059	Destabilizing	0.981	D	0.24	neutral	None	None	None	None	N
Q/D	0.2129	likely_benign	0.2376	benign	0.179	Stabilizing	0.388	N	0.202	neutral	None	None	None	None	N
Q/E	0.0825	likely_benign	0.0825	benign	0.205	Stabilizing	0.165	N	0.283	neutral	N	0.418778741	None	None	N
Q/F	0.4732	ambiguous	0.5469	ambiguous	-0.351	Destabilizing	0.527	D	0.287	neutral	None	None	None	None	N
Q/G	0.1703	likely_benign	0.1897	benign	-0.471	Destabilizing	0.207	N	0.293	neutral	None	None	None	None	N
Q/H	0.1412	likely_benign	0.1689	benign	-0.101	Destabilizing	0.912	D	0.305	neutral	N	0.466609974	None	None	N
Q/I	0.2721	likely_benign	0.3338	benign	0.264	Stabilizing	0.241	N	0.312	neutral	None	None	None	None	N
Q/K	0.1061	likely_benign	0.1107	benign	0.096	Stabilizing	0.165	N	0.255	neutral	N	0.437788576	None	None	N
Q/L	0.0918	likely_benign	0.1031	benign	0.264	Stabilizing	0.001	N	0.182	neutral	N	0.459222641	None	None	N
Q/M	0.2352	likely_benign	0.2688	benign	0.194	Stabilizing	0.527	D	0.305	neutral	None	None	None	None	N
Q/N	0.1382	likely_benign	0.1619	benign	-0.435	Destabilizing	0.388	N	0.218	neutral	None	None	None	None	N
Q/P	0.2804	likely_benign	0.3156	benign	0.122	Stabilizing	0.492	N	0.337	neutral	N	0.499682397	None	None	N
Q/R	0.126	likely_benign	0.1229	benign	0.264	Stabilizing	0.492	N	0.229	neutral	N	0.428361017	None	None	N
Q/S	0.1417	likely_benign	0.1613	benign	-0.455	Destabilizing	0.01	N	0.143	neutral	None	None	None	None	N
Q/T	0.1255	likely_benign	0.1482	benign	-0.256	Destabilizing	0.116	N	0.269	neutral	None	None	None	None	N
Q/V	0.1793	likely_benign	0.2114	benign	0.122	Stabilizing	0.241	N	0.303	neutral	None	None	None	None	N
Q/W	0.4607	ambiguous	0.4838	ambiguous	-0.338	Destabilizing	0.981	D	0.254	neutral	None	None	None	None	N
Q/Y	0.2864	likely_benign	0.3338	benign	-0.058	Destabilizing	0.818	D	0.308	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.