TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31078	93457;93458;93459	chr2:178548394;178548393;178548392	chr2:179413121;179413120;179413119
N2AB	29437	88534;88535;88536	chr2:178548394;178548393;178548392	chr2:179413121;179413120;179413119
N2A	28510	85753;85754;85755	chr2:178548394;178548393;178548392	chr2:179413121;179413120;179413119
N2B	22013	66262;66263;66264	chr2:178548394;178548393;178548392	chr2:179413121;179413120;179413119
Novex-1	22138	66637;66638;66639	chr2:178548394;178548393;178548392	chr2:179413121;179413120;179413119
Novex-2	22205	66838;66839;66840	chr2:178548394;178548393;178548392	chr2:179413121;179413120;179413119
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Fn3-114
• Domain position: 63
• Structural Position: 94
• Q(SASA): 0.4139
• 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
N/S	None	None	None	N	0.103	0.125	0.0297737177859	gnomAD-4.0.0	3.18227E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.71611E-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
N/A	0.068	likely_benign	0.0769	benign	-0.524	Destabilizing	0.007	N	0.299	neutral	None	None	None	None	N
N/C	0.1012	likely_benign	0.1228	benign	0.232	Stabilizing	0.356	N	0.468	neutral	None	None	None	None	N
N/D	0.0894	likely_benign	0.0952	benign	0.124	Stabilizing	0.012	N	0.291	neutral	N	0.356807563	None	None	N
N/E	0.1482	likely_benign	0.1766	benign	0.112	Stabilizing	0.016	N	0.255	neutral	None	None	None	None	N
N/F	0.2481	likely_benign	0.3018	benign	-0.78	Destabilizing	0.356	N	0.549	neutral	None	None	None	None	N
N/G	0.08	likely_benign	0.106	benign	-0.73	Destabilizing	None	N	0.109	neutral	None	None	None	None	N
N/H	0.0774	likely_benign	0.0825	benign	-0.66	Destabilizing	0.295	N	0.398	neutral	N	0.475941533	None	None	N
N/I	0.094	likely_benign	0.0985	benign	-0.059	Destabilizing	0.001	N	0.377	neutral	N	0.465417895	None	None	N
N/K	0.1224	likely_benign	0.1308	benign	0.044	Stabilizing	0.012	N	0.25	neutral	N	0.406406877	None	None	N
N/L	0.0921	likely_benign	0.0999	benign	-0.059	Destabilizing	0.016	N	0.321	neutral	None	None	None	None	N
N/M	0.1289	likely_benign	0.1399	benign	0.327	Stabilizing	0.356	N	0.482	neutral	None	None	None	None	N
N/P	0.1218	likely_benign	0.1215	benign	-0.186	Destabilizing	0.072	N	0.481	neutral	None	None	None	None	N
N/Q	0.1254	likely_benign	0.1475	benign	-0.497	Destabilizing	0.072	N	0.359	neutral	None	None	None	None	N
N/R	0.1353	likely_benign	0.1598	benign	0.109	Stabilizing	0.072	N	0.271	neutral	None	None	None	None	N
N/S	0.0472	likely_benign	0.0508	benign	-0.326	Destabilizing	None	N	0.103	neutral	N	0.372408946	None	None	N
N/T	0.0495	likely_benign	0.0493	benign	-0.177	Destabilizing	None	N	0.107	neutral	N	0.341739323	None	None	N
N/V	0.0893	likely_benign	0.0991	benign	-0.186	Destabilizing	0.016	N	0.318	neutral	None	None	None	None	N
N/W	0.3826	ambiguous	0.4858	ambiguous	-0.683	Destabilizing	0.864	D	0.483	neutral	None	None	None	None	N
N/Y	0.1043	likely_benign	0.1219	benign	-0.445	Destabilizing	0.295	N	0.533	neutral	N	0.513633129	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.