TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7299	22120;22121;22122	chr2:178723112;178723111;178723110	chr2:179587839;179587838;179587837
N2AB	6982	21169;21170;21171	chr2:178723112;178723111;178723110	chr2:179587839;179587838;179587837
N2A	6055	18388;18389;18390	chr2:178723112;178723111;178723110	chr2:179587839;179587838;179587837
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-57
• Domain position: 70
• Structural Position: 153
• Q(SASA): 0.413
• 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/P	None	None	0.065	N	0.459	0.3	0.268211541103	gnomAD-4.0.0	6.84291E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99546E-07	0	0
Q/R	None	None	None	N	0.117	0.059	0.167679373172	gnomAD-4.0.0	1.36858E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	2.319E-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	0.1576	likely_benign	0.166	benign	-0.772	Destabilizing	0.004	N	0.301	neutral	None	None	None	None	N
Q/C	0.3817	ambiguous	0.4059	ambiguous	-0.055	Destabilizing	0.497	N	0.529	neutral	None	None	None	None	N
Q/D	0.2206	likely_benign	0.2517	benign	-0.029	Destabilizing	0.004	N	0.251	neutral	None	None	None	None	N
Q/E	0.0694	likely_benign	0.0693	benign	0.032	Stabilizing	None	N	0.107	neutral	N	0.436626288	None	None	N
Q/F	0.3391	likely_benign	0.3659	ambiguous	-0.629	Destabilizing	0.138	N	0.619	neutral	None	None	None	None	N
Q/G	0.2062	likely_benign	0.2138	benign	-1.073	Destabilizing	0.008	N	0.335	neutral	None	None	None	None	N
Q/H	0.1104	likely_benign	0.121	benign	-0.863	Destabilizing	None	N	0.114	neutral	D	0.524632062	None	None	N
Q/I	0.1784	likely_benign	0.2018	benign	-0.025	Destabilizing	0.085	N	0.603	neutral	None	None	None	None	N
Q/K	0.0716	likely_benign	0.0722	benign	-0.102	Destabilizing	None	N	0.115	neutral	N	0.443840262	None	None	N
Q/L	0.0836	likely_benign	0.0845	benign	-0.025	Destabilizing	0.014	N	0.361	neutral	N	0.49492523	None	None	N
Q/M	0.2258	likely_benign	0.2421	benign	0.408	Stabilizing	0.497	N	0.4	neutral	None	None	None	None	N
Q/N	0.1424	likely_benign	0.1755	benign	-0.602	Destabilizing	None	N	0.13	neutral	None	None	None	None	N
Q/P	0.1413	likely_benign	0.1389	benign	-0.244	Destabilizing	0.065	N	0.459	neutral	N	0.494340064	None	None	N
Q/R	0.0769	likely_benign	0.0744	benign	-0.013	Destabilizing	None	N	0.117	neutral	N	0.464871682	None	None	N
Q/S	0.1601	likely_benign	0.1748	benign	-0.755	Destabilizing	0.001	N	0.113	neutral	None	None	None	None	N
Q/T	0.1325	likely_benign	0.141	benign	-0.494	Destabilizing	0.009	N	0.35	neutral	None	None	None	None	N
Q/V	0.1433	likely_benign	0.1502	benign	-0.244	Destabilizing	0.018	N	0.425	neutral	None	None	None	None	N
Q/W	0.2424	likely_benign	0.2497	benign	-0.428	Destabilizing	0.788	D	0.536	neutral	None	None	None	None	N
Q/Y	0.2043	likely_benign	0.2207	benign	-0.231	Destabilizing	0.022	N	0.471	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.