TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31899	95920;95921;95922	chr2:178545415;178545414;178545413	chr2:179410142;179410141;179410140
N2AB	30258	90997;90998;90999	chr2:178545415;178545414;178545413	chr2:179410142;179410141;179410140
N2A	29331	88216;88217;88218	chr2:178545415;178545414;178545413	chr2:179410142;179410141;179410140
N2B	22834	68725;68726;68727	chr2:178545415;178545414;178545413	chr2:179410142;179410141;179410140
Novex-1	22959	69100;69101;69102	chr2:178545415;178545414;178545413	chr2:179410142;179410141;179410140
Novex-2	23026	69301;69302;69303	chr2:178545415;178545414;178545413	chr2:179410142;179410141;179410140
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Fn3-120
• Domain position: 93
• Structural Position: 125
• Q(SASA): 0.7977
• 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	0.07	N	0.281	0.084	0.104622674875	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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	0.0823	likely_benign	0.0928	benign	-0.343	Destabilizing	0.006	N	0.268	neutral	None	None	None	None	N
N/C	0.1296	likely_benign	0.1328	benign	0.149	Stabilizing	0.989	D	0.355	neutral	None	None	None	None	N
N/D	0.0878	likely_benign	0.096	benign	0.368	Stabilizing	0.001	N	0.222	neutral	N	0.424989851	None	None	N
N/E	0.1459	likely_benign	0.1754	benign	0.338	Stabilizing	0.09	N	0.229	neutral	None	None	None	None	N
N/F	0.2944	likely_benign	0.3122	benign	-0.809	Destabilizing	0.887	D	0.493	neutral	None	None	None	None	N
N/G	0.1212	likely_benign	0.1318	benign	-0.491	Destabilizing	0.165	N	0.239	neutral	None	None	None	None	N
N/H	0.0778	likely_benign	0.0756	benign	-0.41	Destabilizing	0.003	N	0.165	neutral	N	0.519785524	None	None	N
N/I	0.1023	likely_benign	0.1102	benign	-0.046	Destabilizing	0.627	D	0.564	neutral	N	0.481304493	None	None	N
N/K	0.1139	likely_benign	0.1297	benign	0.179	Stabilizing	0.146	N	0.257	neutral	N	0.442594176	None	None	N
N/L	0.1083	likely_benign	0.1155	benign	-0.046	Destabilizing	0.312	N	0.322	neutral	None	None	None	None	N
N/M	0.1854	likely_benign	0.2018	benign	0.072	Stabilizing	0.887	D	0.423	neutral	None	None	None	None	N
N/P	0.1418	likely_benign	0.1585	benign	-0.119	Destabilizing	None	N	0.261	neutral	None	None	None	None	N
N/Q	0.1293	likely_benign	0.149	benign	-0.29	Destabilizing	0.006	N	0.162	neutral	None	None	None	None	N
N/R	0.1226	likely_benign	0.1383	benign	0.242	Stabilizing	0.355	N	0.385	neutral	None	None	None	None	N
N/S	0.0633	likely_benign	0.0625	benign	-0.15	Destabilizing	0.07	N	0.281	neutral	N	0.401246199	None	None	N
N/T	0.0771	likely_benign	0.081	benign	-0.031	Destabilizing	0.255	N	0.259	neutral	N	0.455136612	None	None	N
N/V	0.0899	likely_benign	0.0992	benign	-0.119	Destabilizing	0.312	N	0.379	neutral	None	None	None	None	N
N/W	0.5121	ambiguous	0.5465	ambiguous	-0.832	Destabilizing	0.989	D	0.391	neutral	None	None	None	None	N
N/Y	0.1138	likely_benign	0.114	benign	-0.536	Destabilizing	0.454	N	0.591	neutral	N	0.51909209	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.