TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9235	27928;27929;27930	chr2:178712127;178712126;178712125	chr2:179576854;179576853;179576852
N2AB	8918	26977;26978;26979	chr2:178712127;178712126;178712125	chr2:179576854;179576853;179576852
N2A	7991	24196;24197;24198	chr2:178712127;178712126;178712125	chr2:179576854;179576853;179576852
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: G
• RefSeq wild type transcript codon: GGG
• RefSeq wild type template codon: CCC
• Domain: Ig-78
• Domain position: 31
• Structural Position: 45
• Q(SASA): 0.3193
• 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
G/V	None	None	None	N	0.381	0.153	0.187945064343	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	6.33473E-05	0	None	0	0	None	0	0	0	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
G/A	0.0593	likely_benign	0.0661	benign	-0.434	Destabilizing	None	N	0.072	neutral	N	0.370902729	None	None	I
G/C	0.1433	likely_benign	0.1481	benign	-0.847	Destabilizing	0.356	N	0.53	neutral	None	None	None	None	I
G/D	0.1811	likely_benign	0.2231	benign	-0.448	Destabilizing	0.072	N	0.447	neutral	None	None	None	None	I
G/E	0.1318	likely_benign	0.1473	benign	-0.478	Destabilizing	0.012	N	0.402	neutral	N	0.361011022	None	None	I
G/F	0.2703	likely_benign	0.2991	benign	-0.737	Destabilizing	0.214	N	0.582	neutral	None	None	None	None	I
G/H	0.1902	likely_benign	0.2016	benign	-0.893	Destabilizing	0.356	N	0.541	neutral	None	None	None	None	I
G/I	0.0959	likely_benign	0.0969	benign	-0.039	Destabilizing	None	N	0.373	neutral	None	None	None	None	I
G/K	0.1608	likely_benign	0.175	benign	-0.874	Destabilizing	None	N	0.254	neutral	None	None	None	None	I
G/L	0.1541	likely_benign	0.1653	benign	-0.039	Destabilizing	0.016	N	0.355	neutral	None	None	None	None	I
G/M	0.1689	likely_benign	0.17	benign	-0.3	Destabilizing	0.214	N	0.555	neutral	None	None	None	None	I
G/N	0.1445	likely_benign	0.1645	benign	-0.675	Destabilizing	0.038	N	0.343	neutral	None	None	None	None	I
G/P	0.7247	likely_pathogenic	0.8423	pathogenic	-0.129	Destabilizing	0.072	N	0.551	neutral	None	None	None	None	I
G/Q	0.1537	likely_benign	0.1607	benign	-0.74	Destabilizing	0.072	N	0.561	neutral	None	None	None	None	I
G/R	0.1152	likely_benign	0.1286	benign	-0.682	Destabilizing	None	N	0.348	neutral	N	0.357434786	None	None	I
G/S	0.0639	likely_benign	0.0709	benign	-0.987	Destabilizing	None	N	0.111	neutral	None	None	None	None	I
G/T	0.0593	likely_benign	0.0642	benign	-0.901	Destabilizing	0.016	N	0.381	neutral	None	None	None	None	I
G/V	0.0734	likely_benign	0.0751	benign	-0.129	Destabilizing	None	N	0.381	neutral	N	0.392355436	None	None	I
G/W	0.2436	likely_benign	0.2778	benign	-1.09	Destabilizing	0.828	D	0.553	neutral	N	0.453905327	None	None	I
G/Y	0.2374	likely_benign	0.27	benign	-0.622	Destabilizing	0.356	N	0.566	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.