TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9159	27700;27701;27702	chr2:178712447;178712446;178712445	chr2:179577174;179577173;179577172
N2AB	8842	26749;26750;26751	chr2:178712447;178712446;178712445	chr2:179577174;179577173;179577172
N2A	7915	23968;23969;23970	chr2:178712447;178712446;178712445	chr2:179577174;179577173;179577172
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
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: Ig-77
• Domain position: 48
• Structural Position: 122
• Q(SASA): 0.3889
• 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	0.133	0.084	0.0401082797425	gnomAD-4.0.0	1.59116E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85804E-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	0.1468	likely_benign	0.1615	benign	-0.826	Destabilizing	0.016	N	0.391	neutral	None	None	None	None	N
N/C	0.1885	likely_benign	0.2071	benign	-0.153	Destabilizing	0.676	D	0.51	neutral	None	None	None	None	N
N/D	0.1383	likely_benign	0.1436	benign	-1.122	Destabilizing	0.024	N	0.318	neutral	N	0.51126012	None	None	N
N/E	0.3064	likely_benign	0.3221	benign	-1.025	Destabilizing	0.016	N	0.292	neutral	None	None	None	None	N
N/F	0.2763	likely_benign	0.2985	benign	-0.679	Destabilizing	0.214	N	0.527	neutral	None	None	None	None	N
N/G	0.2107	likely_benign	0.2363	benign	-1.157	Destabilizing	0.016	N	0.298	neutral	None	None	None	None	N
N/H	0.0805	likely_benign	0.0799	benign	-0.984	Destabilizing	None	N	0.141	neutral	D	0.522554549	None	None	N
N/I	0.1176	likely_benign	0.1275	benign	0.012	Stabilizing	0.029	N	0.528	neutral	N	0.490367272	None	None	N
N/K	0.2161	likely_benign	0.2347	benign	-0.336	Destabilizing	0.001	N	0.164	neutral	N	0.492306213	None	None	N
N/L	0.148	likely_benign	0.1519	benign	0.012	Stabilizing	0.006	N	0.441	neutral	None	None	None	None	N
N/M	0.2153	likely_benign	0.2299	benign	0.528	Stabilizing	0.007	N	0.367	neutral	None	None	None	None	N
N/P	0.7799	likely_pathogenic	0.7676	pathogenic	-0.237	Destabilizing	0.136	N	0.553	neutral	None	None	None	None	N
N/Q	0.2182	likely_benign	0.232	benign	-1.1	Destabilizing	0.072	N	0.367	neutral	None	None	None	None	N
N/R	0.2091	likely_benign	0.2251	benign	-0.325	Destabilizing	0.038	N	0.287	neutral	None	None	None	None	N
N/S	0.0641	likely_benign	0.0687	benign	-0.991	Destabilizing	None	N	0.133	neutral	N	0.440552028	None	None	N
N/T	0.0847	likely_benign	0.0919	benign	-0.712	Destabilizing	None	N	0.139	neutral	N	0.508393173	None	None	N
N/V	0.137	likely_benign	0.1443	benign	-0.237	Destabilizing	0.038	N	0.481	neutral	None	None	None	None	N
N/W	0.5815	likely_pathogenic	0.6144	pathogenic	-0.472	Destabilizing	0.864	D	0.549	neutral	None	None	None	None	N
N/Y	0.1124	likely_benign	0.12	benign	-0.223	Destabilizing	0.093	N	0.541	neutral	N	0.502230557	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.