TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20022	60289;60290;60291	chr2:178591755;178591754;178591753	chr2:179456482;179456481;179456480
N2AB	18381	55366;55367;55368	chr2:178591755;178591754;178591753	chr2:179456482;179456481;179456480
N2A	17454	52585;52586;52587	chr2:178591755;178591754;178591753	chr2:179456482;179456481;179456480
N2B	10957	33094;33095;33096	chr2:178591755;178591754;178591753	chr2:179456482;179456481;179456480
Novex-1	11082	33469;33470;33471	chr2:178591755;178591754;178591753	chr2:179456482;179456481;179456480
Novex-2	11149	33670;33671;33672	chr2:178591755;178591754;178591753	chr2:179456482;179456481;179456480
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: Fn3-33
• Domain position: 46
• Structural Position: 63
• Q(SASA): 0.8033
• 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	None	N	0.08	0.17	0.0482279557977	gnomAD-4.0.0	1.59214E-06	None	None	None	None	N	None	0	0	None	0	2.78118E-05	None	0	0	0	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	0.0714	likely_benign	0.0778	benign	-0.119	Destabilizing	0.004	N	0.393	neutral	None	None	None	None	N
Q/C	0.4697	ambiguous	0.4665	ambiguous	-0.111	Destabilizing	0.497	N	0.251	neutral	None	None	None	None	N
Q/D	0.1139	likely_benign	0.1149	benign	-0.284	Destabilizing	None	N	0.083	neutral	None	None	None	None	N
Q/E	0.0465	likely_benign	0.0485	benign	-0.35	Destabilizing	None	N	0.08	neutral	N	0.391898784	None	None	N
Q/F	0.4707	ambiguous	0.4957	ambiguous	-0.571	Destabilizing	0.245	N	0.306	neutral	None	None	None	None	N
Q/G	0.1087	likely_benign	0.1107	benign	-0.193	Destabilizing	0.018	N	0.397	neutral	None	None	None	None	N
Q/H	0.1388	likely_benign	0.1338	benign	-0.015	Destabilizing	0.196	N	0.284	neutral	N	0.450411157	None	None	N
Q/I	0.1875	likely_benign	0.2049	benign	-0.016	Destabilizing	0.022	N	0.303	neutral	None	None	None	None	N
Q/K	0.0535	likely_benign	0.0527	benign	-0.061	Destabilizing	None	N	0.07	neutral	N	0.363002816	None	None	N
Q/L	0.0862	likely_benign	0.0962	benign	-0.016	Destabilizing	0.007	N	0.392	neutral	N	0.43203604	None	None	N
Q/M	0.1929	likely_benign	0.2041	benign	0.025	Stabilizing	0.245	N	0.296	neutral	None	None	None	None	N
Q/N	0.1134	likely_benign	0.1164	benign	-0.203	Destabilizing	0.009	N	0.328	neutral	None	None	None	None	N
Q/P	0.0603	likely_benign	0.0624	benign	-0.029	Destabilizing	None	N	0.163	neutral	N	0.431515965	None	None	N
Q/R	0.08	likely_benign	0.0777	benign	0.146	Stabilizing	0.007	N	0.337	neutral	N	0.439020728	None	None	N
Q/S	0.08	likely_benign	0.0894	benign	-0.211	Destabilizing	0.004	N	0.327	neutral	None	None	None	None	N
Q/T	0.0692	likely_benign	0.0748	benign	-0.172	Destabilizing	0.018	N	0.441	neutral	None	None	None	None	N
Q/V	0.1033	likely_benign	0.1174	benign	-0.029	Destabilizing	None	N	0.173	neutral	None	None	None	None	N
Q/W	0.4139	ambiguous	0.3976	ambiguous	-0.657	Destabilizing	0.788	D	0.275	neutral	None	None	None	None	N
Q/Y	0.316	likely_benign	0.339	benign	-0.368	Destabilizing	0.22	N	0.335	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.