TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28012	84259;84260;84261	chr2:178562098;178562097;178562096	chr2:179426825;179426824;179426823
N2AB	26371	79336;79337;79338	chr2:178562098;178562097;178562096	chr2:179426825;179426824;179426823
N2A	25444	76555;76556;76557	chr2:178562098;178562097;178562096	chr2:179426825;179426824;179426823
N2B	18947	57064;57065;57066	chr2:178562098;178562097;178562096	chr2:179426825;179426824;179426823
Novex-1	19072	57439;57440;57441	chr2:178562098;178562097;178562096	chr2:179426825;179426824;179426823
Novex-2	19139	57640;57641;57642	chr2:178562098;178562097;178562096	chr2:179426825;179426824;179426823
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Ig-142
• Domain position: 50
• Structural Position: 125
• Q(SASA): 0.5065
• 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
S/F	None	None	0.033	D	0.486	0.132	0.508223314113	gnomAD-4.0.0	6.84444E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99617E-07	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
S/A	0.0723	likely_benign	0.0767	benign	-0.517	Destabilizing	None	N	0.145	neutral	D	0.528075012	None	None	N
S/C	0.0793	likely_benign	0.0923	benign	-0.197	Destabilizing	0.196	N	0.325	neutral	N	0.50659865	None	None	N
S/D	0.2359	likely_benign	0.3117	benign	-0.294	Destabilizing	None	N	0.163	neutral	None	None	None	None	N
S/E	0.2684	likely_benign	0.3364	benign	-0.399	Destabilizing	0.009	N	0.237	neutral	None	None	None	None	N
S/F	0.1018	likely_benign	0.1174	benign	-1.285	Destabilizing	0.033	N	0.486	neutral	D	0.529808595	None	None	N
S/G	0.0997	likely_benign	0.1104	benign	-0.584	Destabilizing	0.009	N	0.261	neutral	None	None	None	None	N
S/H	0.136	likely_benign	0.17	benign	-1.246	Destabilizing	0.138	N	0.331	neutral	None	None	None	None	N
S/I	0.0798	likely_benign	0.0887	benign	-0.462	Destabilizing	None	N	0.203	neutral	None	None	None	None	N
S/K	0.3163	likely_benign	0.4121	ambiguous	-0.412	Destabilizing	0.009	N	0.224	neutral	None	None	None	None	N
S/L	0.0735	likely_benign	0.0781	benign	-0.462	Destabilizing	None	N	0.15	neutral	None	None	None	None	N
S/M	0.1275	likely_benign	0.1312	benign	0.099	Stabilizing	0.138	N	0.394	neutral	None	None	None	None	N
S/N	0.0848	likely_benign	0.0972	benign	-0.164	Destabilizing	0.009	N	0.274	neutral	None	None	None	None	N
S/P	0.6774	likely_pathogenic	0.7921	pathogenic	-0.457	Destabilizing	0.033	N	0.429	neutral	N	0.494735365	None	None	N
S/Q	0.2094	likely_benign	0.25	benign	-0.529	Destabilizing	None	N	0.125	neutral	None	None	None	None	N
S/R	0.2613	likely_benign	0.3571	ambiguous	-0.182	Destabilizing	0.022	N	0.423	neutral	None	None	None	None	N
S/T	0.0587	likely_benign	0.059	benign	-0.246	Destabilizing	None	N	0.168	neutral	N	0.477030116	None	None	N
S/V	0.0931	likely_benign	0.1008	benign	-0.457	Destabilizing	None	N	0.176	neutral	None	None	None	None	N
S/W	0.2075	likely_benign	0.268	benign	-1.269	Destabilizing	0.788	D	0.411	neutral	None	None	None	None	N
S/Y	0.1161	likely_benign	0.1352	benign	-0.985	Destabilizing	0.065	N	0.5	neutral	D	0.536003849	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.