TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20419	61480;61481;61482	chr2:178590470;178590469;178590468	chr2:179455197;179455196;179455195
N2AB	18778	56557;56558;56559	chr2:178590470;178590469;178590468	chr2:179455197;179455196;179455195
N2A	17851	53776;53777;53778	chr2:178590470;178590469;178590468	chr2:179455197;179455196;179455195
N2B	11354	34285;34286;34287	chr2:178590470;178590469;178590468	chr2:179455197;179455196;179455195
Novex-1	11479	34660;34661;34662	chr2:178590470;178590469;178590468	chr2:179455197;179455196;179455195
Novex-2	11546	34861;34862;34863	chr2:178590470;178590469;178590468	chr2:179455197;179455196;179455195
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: Fn3-36
• Domain position: 49
• Structural Position: 66
• Q(SASA): 0.6727
• 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/H	None	None	0.295	N	0.24	0.133	0.0401082797425	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
N/K	None	None	None	N	0.071	0.103	0.0666544352282	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.66327E-05

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	0.1307	likely_benign	0.1788	benign	-0.702	Destabilizing	0.007	N	0.212	neutral	None	None	None	None	N
N/C	0.1652	likely_benign	0.233	benign	0.15	Stabilizing	0.676	D	0.307	neutral	None	None	None	None	N
N/D	0.1042	likely_benign	0.0903	benign	-0.225	Destabilizing	None	N	0.077	neutral	N	0.399155617	None	None	N
N/E	0.1463	likely_benign	0.1426	benign	-0.169	Destabilizing	None	N	0.072	neutral	None	None	None	None	N
N/F	0.3382	likely_benign	0.4484	ambiguous	-0.537	Destabilizing	0.356	N	0.372	neutral	None	None	None	None	N
N/G	0.2074	likely_benign	0.2727	benign	-1.009	Destabilizing	0.007	N	0.139	neutral	None	None	None	None	N
N/H	0.0922	likely_benign	0.0944	benign	-0.85	Destabilizing	0.295	N	0.24	neutral	N	0.411103407	None	None	N
N/I	0.1081	likely_benign	0.1311	benign	0.059	Stabilizing	0.055	N	0.391	neutral	N	0.388842623	None	None	N
N/K	0.1687	likely_benign	0.1705	benign	-0.289	Destabilizing	None	N	0.071	neutral	N	0.353343183	None	None	N
N/L	0.1345	likely_benign	0.1698	benign	0.059	Stabilizing	0.016	N	0.285	neutral	None	None	None	None	N
N/M	0.1608	likely_benign	0.2199	benign	0.451	Stabilizing	0.628	D	0.305	neutral	None	None	None	None	N
N/P	0.7965	likely_pathogenic	0.8077	pathogenic	-0.165	Destabilizing	0.072	N	0.343	neutral	None	None	None	None	N
N/Q	0.1539	likely_benign	0.1746	benign	-0.732	Destabilizing	0.038	N	0.141	neutral	None	None	None	None	N
N/R	0.2112	likely_benign	0.2305	benign	-0.318	Destabilizing	0.016	N	0.155	neutral	None	None	None	None	N
N/S	0.0715	likely_benign	0.087	benign	-0.706	Destabilizing	None	N	0.109	neutral	N	0.404196078	None	None	N
N/T	0.0697	likely_benign	0.0925	benign	-0.472	Destabilizing	None	N	0.105	neutral	N	0.379337706	None	None	N
N/V	0.1083	likely_benign	0.1299	benign	-0.165	Destabilizing	0.016	N	0.328	neutral	None	None	None	None	N
N/W	0.5097	ambiguous	0.6102	pathogenic	-0.351	Destabilizing	0.864	D	0.33	neutral	None	None	None	None	N
N/Y	0.1204	likely_benign	0.1321	benign	-0.166	Destabilizing	0.295	N	0.352	neutral	N	0.423013912	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.