TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7100	21523;21524;21525	chr2:178723961;178723960;178723959	chr2:179588688;179588687;179588686
N2AB	6783	20572;20573;20574	chr2:178723961;178723960;178723959	chr2:179588688;179588687;179588686
N2A	5856	17791;17792;17793	chr2:178723961;178723960;178723959	chr2:179588688;179588687;179588686
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: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-55
• Domain position: 57
• Structural Position: 137
• Q(SASA): 0.1738
• 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/I	None	None	0.002	N	0.409	0.335	0.384419519794	gnomAD-4.0.0	3.18371E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.71912E-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	0.0762	likely_benign	0.0751	benign	-1.046	Destabilizing	0.001	N	0.194	neutral	N	0.50989747	None	None	N
T/C	0.3519	ambiguous	0.355	ambiguous	-0.846	Destabilizing	0.836	D	0.641	neutral	None	None	None	None	N
T/D	0.4101	ambiguous	0.4195	ambiguous	-1.87	Destabilizing	0.418	N	0.661	neutral	None	None	None	None	N
T/E	0.2972	likely_benign	0.2927	benign	-1.689	Destabilizing	0.418	N	0.628	neutral	None	None	None	None	N
T/F	0.1448	likely_benign	0.1446	benign	-0.756	Destabilizing	0.002	N	0.481	neutral	None	None	None	None	N
T/G	0.2397	likely_benign	0.256	benign	-1.439	Destabilizing	0.129	N	0.619	neutral	None	None	None	None	N
T/H	0.1768	likely_benign	0.1823	benign	-1.67	Destabilizing	0.94	D	0.631	neutral	None	None	None	None	N
T/I	0.1012	likely_benign	0.1025	benign	-0.026	Destabilizing	0.002	N	0.409	neutral	N	0.509590826	None	None	N
T/K	0.1719	likely_benign	0.1713	benign	-0.671	Destabilizing	0.351	N	0.63	neutral	D	0.531291462	None	None	N
T/L	0.0744	likely_benign	0.0763	benign	-0.026	Destabilizing	0.022	N	0.497	neutral	None	None	None	None	N
T/M	0.0741	likely_benign	0.0756	benign	0.012	Stabilizing	0.061	N	0.487	neutral	None	None	None	None	N
T/N	0.1196	likely_benign	0.1284	benign	-1.383	Destabilizing	0.418	N	0.549	neutral	None	None	None	None	N
T/P	0.4906	ambiguous	0.5123	ambiguous	-0.335	Destabilizing	0.794	D	0.685	prob.neutral	D	0.529910826	None	None	N
T/Q	0.1838	likely_benign	0.1855	benign	-1.186	Destabilizing	0.836	D	0.683	prob.neutral	None	None	None	None	N
T/R	0.1203	likely_benign	0.1213	benign	-0.847	Destabilizing	0.655	D	0.683	prob.neutral	N	0.509012035	None	None	N
T/S	0.0886	likely_benign	0.0939	benign	-1.486	Destabilizing	0.007	N	0.213	neutral	N	0.4584285	None	None	N
T/V	0.0968	likely_benign	0.0941	benign	-0.335	Destabilizing	0.001	N	0.199	neutral	None	None	None	None	N
T/W	0.4637	ambiguous	0.4471	ambiguous	-0.998	Destabilizing	0.983	D	0.646	neutral	None	None	None	None	N
T/Y	0.1931	likely_benign	0.1832	benign	-0.596	Destabilizing	0.264	N	0.681	prob.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.