TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31293	94102;94103;94104	chr2:178547749;178547748;178547747	chr2:179412476;179412475;179412474
N2AB	29652	89179;89180;89181	chr2:178547749;178547748;178547747	chr2:179412476;179412475;179412474
N2A	28725	86398;86399;86400	chr2:178547749;178547748;178547747	chr2:179412476;179412475;179412474
N2B	22228	66907;66908;66909	chr2:178547749;178547748;178547747	chr2:179412476;179412475;179412474
Novex-1	22353	67282;67283;67284	chr2:178547749;178547748;178547747	chr2:179412476;179412475;179412474
Novex-2	22420	67483;67484;67485	chr2:178547749;178547748;178547747	chr2:179412476;179412475;179412474
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-151
• Domain position: 76
• Structural Position: 162
• Q(SASA): 0.9457
• Predicted PPI site: I

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/I	None	None	0.988	N	0.383	0.422	0.566228512615	gnomAD-4.0.0	1.59109E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85786E-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
T/A	0.0663	likely_benign	0.0684	benign	-0.204	Destabilizing	0.061	N	0.206	neutral	N	0.412018632	None	None	I
T/C	0.3563	ambiguous	0.4027	ambiguous	-0.346	Destabilizing	0.999	D	0.418	neutral	None	None	None	None	I
T/D	0.2674	likely_benign	0.3047	benign	-0.086	Destabilizing	0.939	D	0.397	neutral	None	None	None	None	I
T/E	0.2275	likely_benign	0.2596	benign	-0.184	Destabilizing	0.939	D	0.381	neutral	None	None	None	None	I
T/F	0.2178	likely_benign	0.2585	benign	-0.89	Destabilizing	0.997	D	0.442	neutral	None	None	None	None	I
T/G	0.1842	likely_benign	0.2188	benign	-0.247	Destabilizing	0.759	D	0.379	neutral	None	None	None	None	I
T/H	0.2209	likely_benign	0.2516	benign	-0.449	Destabilizing	0.999	D	0.449	neutral	None	None	None	None	I
T/I	0.1094	likely_benign	0.1264	benign	-0.211	Destabilizing	0.988	D	0.383	neutral	N	0.448248791	None	None	I
T/K	0.1712	likely_benign	0.1926	benign	-0.308	Destabilizing	0.92	D	0.383	neutral	N	0.45092095	None	None	I
T/L	0.0826	likely_benign	0.0907	benign	-0.211	Destabilizing	0.939	D	0.375	neutral	None	None	None	None	I
T/M	0.0814	likely_benign	0.0876	benign	-0.15	Destabilizing	0.997	D	0.416	neutral	None	None	None	None	I
T/N	0.1029	likely_benign	0.1098	benign	-0.102	Destabilizing	0.939	D	0.356	neutral	None	None	None	None	I
T/P	0.0995	likely_benign	0.114	benign	-0.187	Destabilizing	0.988	D	0.392	neutral	N	0.434530133	None	None	I
T/Q	0.1956	likely_benign	0.2274	benign	-0.322	Destabilizing	0.991	D	0.403	neutral	None	None	None	None	I
T/R	0.1514	likely_benign	0.1658	benign	-0.037	Destabilizing	0.988	D	0.398	neutral	N	0.488959263	None	None	I
T/S	0.0927	likely_benign	0.0978	benign	-0.25	Destabilizing	0.159	N	0.215	neutral	N	0.399374622	None	None	I
T/V	0.0957	likely_benign	0.1049	benign	-0.187	Destabilizing	0.939	D	0.381	neutral	None	None	None	None	I
T/W	0.5436	ambiguous	0.6115	pathogenic	-0.976	Destabilizing	0.999	D	0.523	neutral	None	None	None	None	I
T/Y	0.2641	likely_benign	0.2996	benign	-0.659	Destabilizing	0.997	D	0.449	neutral	None	None	None	None	I

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.