TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7777	23554;23555;23556	chr2:178720433;178720432;178720431	chr2:179585160;179585159;179585158
N2AB	7460	22603;22604;22605	chr2:178720433;178720432;178720431	chr2:179585160;179585159;179585158
N2A	6533	19822;19823;19824	chr2:178720433;178720432;178720431	chr2:179585160;179585159;179585158
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: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-62
• Domain position: 76
• Structural Position: 159
• Q(SASA): 0.1877
• 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
T/A	None	None	None	N	0.099	0.118	0.0884992946249	gnomAD-4.0.0	1.59171E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43336E-05	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
T/A	0.0805	likely_benign	0.0802	benign	-0.919	Destabilizing	None	N	0.099	neutral	N	0.518399523	None	None	N
T/C	0.4485	ambiguous	0.4424	ambiguous	-0.736	Destabilizing	0.356	N	0.499	neutral	None	None	None	None	N
T/D	0.5439	ambiguous	0.5491	ambiguous	-0.934	Destabilizing	0.072	N	0.463	neutral	None	None	None	None	N
T/E	0.4003	ambiguous	0.3957	ambiguous	-0.922	Destabilizing	0.072	N	0.461	neutral	None	None	None	None	N
T/F	0.2288	likely_benign	0.2305	benign	-1.049	Destabilizing	0.214	N	0.505	neutral	None	None	None	None	N
T/G	0.2538	likely_benign	0.2647	benign	-1.174	Destabilizing	0.016	N	0.527	neutral	None	None	None	None	N
T/H	0.3036	likely_benign	0.3035	benign	-1.477	Destabilizing	0.628	D	0.515	neutral	None	None	None	None	N
T/I	0.1422	likely_benign	0.1379	benign	-0.326	Destabilizing	0.012	N	0.461	neutral	N	0.487395212	None	None	N
T/K	0.2839	likely_benign	0.2745	benign	-0.834	Destabilizing	0.072	N	0.457	neutral	None	None	None	None	N
T/L	0.1041	likely_benign	0.1032	benign	-0.326	Destabilizing	0.002	N	0.421	neutral	None	None	None	None	N
T/M	0.0865	likely_benign	0.0852	benign	0.056	Stabilizing	0.007	N	0.364	neutral	None	None	None	None	N
T/N	0.1546	likely_benign	0.1497	benign	-0.911	Destabilizing	0.055	N	0.402	neutral	N	0.490825026	None	None	N
T/P	0.777	likely_pathogenic	0.7781	pathogenic	-0.493	Destabilizing	0.055	N	0.487	neutral	D	0.53742879	None	None	N
T/Q	0.2435	likely_benign	0.2457	benign	-1.158	Destabilizing	0.136	N	0.459	neutral	None	None	None	None	N
T/R	0.2142	likely_benign	0.2103	benign	-0.536	Destabilizing	0.072	N	0.478	neutral	None	None	None	None	N
T/S	0.1031	likely_benign	0.103	benign	-1.128	Destabilizing	0.001	N	0.11	neutral	N	0.441381534	None	None	N
T/V	0.1051	likely_benign	0.1052	benign	-0.493	Destabilizing	None	N	0.149	neutral	None	None	None	None	N
T/W	0.6098	likely_pathogenic	0.6152	pathogenic	-0.982	Destabilizing	0.864	D	0.497	neutral	None	None	None	None	N
T/Y	0.3247	likely_benign	0.3179	benign	-0.721	Destabilizing	0.356	N	0.524	neutral	None	None	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.