TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5560	16903;16904;16905	chr2:178732291;178732290;178732289	chr2:179597018;179597017;179597016
N2AB	5243	15952;15953;15954	chr2:178732291;178732290;178732289	chr2:179597018;179597017;179597016
N2A	4316	13171;13172;13173	chr2:178732291;178732290;178732289	chr2:179597018;179597017;179597016
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: A
• RefSeq wild type transcript codon: GCC
• RefSeq wild type template codon: CGG
• Domain: Ig-39
• Domain position: 18
• Structural Position: 26
• Q(SASA): 0.3283
• 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
A/D	rs1203322735	-0.407	0.029	N	0.417	0.08	0.257292322809	gnomAD-2.1.1	8.07E-06	None	None	None	None	N	None	0	5.8E-05	None	0	0	None	0	None	0	0	0
A/D	rs1203322735	-0.407	0.029	N	0.417	0.08	0.257292322809	gnomAD-4.0.0	1.36889E-05	None	None	None	None	N	None	0	8.94935E-05	None	0	0	None	0	0	1.43952E-05	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
A/C	0.2643	likely_benign	0.2829	benign	-0.662	Destabilizing	0.356	N	0.39	neutral	None	None	None	None	N
A/D	0.1127	likely_benign	0.1205	benign	-0.407	Destabilizing	0.029	N	0.417	neutral	N	0.413916347	None	None	N
A/E	0.1269	likely_benign	0.1306	benign	-0.552	Destabilizing	0.038	N	0.409	neutral	None	None	None	None	N
A/F	0.1496	likely_benign	0.1452	benign	-0.836	Destabilizing	0.038	N	0.437	neutral	None	None	None	None	N
A/G	0.0857	likely_benign	0.1013	benign	-0.323	Destabilizing	None	N	0.116	neutral	N	0.451013298	None	None	N
A/H	0.2212	likely_benign	0.2281	benign	-0.419	Destabilizing	0.214	N	0.405	neutral	None	None	None	None	N
A/I	0.1298	likely_benign	0.1284	benign	-0.232	Destabilizing	0.038	N	0.409	neutral	None	None	None	None	N
A/K	0.2004	likely_benign	0.2049	benign	-0.619	Destabilizing	0.038	N	0.395	neutral	None	None	None	None	N
A/L	0.1144	likely_benign	0.1141	benign	-0.232	Destabilizing	None	N	0.117	neutral	None	None	None	None	N
A/M	0.1336	likely_benign	0.131	benign	-0.276	Destabilizing	0.214	N	0.39	neutral	None	None	None	None	N
A/N	0.1127	likely_benign	0.1175	benign	-0.241	Destabilizing	0.038	N	0.411	neutral	None	None	None	None	N
A/P	0.1457	likely_benign	0.1442	benign	-0.201	Destabilizing	0.055	N	0.453	neutral	N	0.391983637	None	None	N
A/Q	0.1848	likely_benign	0.1928	benign	-0.508	Destabilizing	0.214	N	0.447	neutral	None	None	None	None	N
A/R	0.1757	likely_benign	0.1806	benign	-0.183	Destabilizing	0.072	N	0.445	neutral	None	None	None	None	N
A/S	0.0693	likely_benign	0.0678	benign	-0.461	Destabilizing	None	N	0.087	neutral	N	0.313656139	None	None	N
A/T	0.0645	likely_benign	0.0643	benign	-0.521	Destabilizing	None	N	0.121	neutral	N	0.383228081	None	None	N
A/V	0.0887	likely_benign	0.0901	benign	-0.201	Destabilizing	0.012	N	0.299	neutral	N	0.426232284	None	None	N
A/W	0.3955	ambiguous	0.4121	ambiguous	-1.009	Destabilizing	0.676	D	0.411	neutral	None	None	None	None	N
A/Y	0.1955	likely_benign	0.1964	benign	-0.637	Destabilizing	None	N	0.261	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.