TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8437	25534;25535;25536	chr2:178717565;178717564;178717563	chr2:179582292;179582291;179582290
N2AB	8120	24583;24584;24585	chr2:178717565;178717564;178717563	chr2:179582292;179582291;179582290
N2A	7193	21802;21803;21804	chr2:178717565;178717564;178717563	chr2:179582292;179582291;179582290
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: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Ig-69
• Domain position: 78
• Structural Position: 162
• Q(SASA): 0.7841
• 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
P/L	rs1560631696	None	0.043	N	0.233	0.175	0.523702305895	gnomAD-4.0.0	6.84728E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.9997E-07	0	0
P/R	rs1560631696	None	0.178	N	0.269	0.204	0.363158594168	gnomAD-4.0.0	6.84728E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.9997E-07	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
P/A	0.0699	likely_benign	0.067	benign	-0.39	Destabilizing	None	N	0.116	neutral	N	0.431143111	None	None	I
P/C	0.4625	ambiguous	0.4718	ambiguous	-0.756	Destabilizing	0.141	N	0.215	neutral	None	None	None	None	I
P/D	0.2183	likely_benign	0.2196	benign	-0.249	Destabilizing	0.001	N	0.292	neutral	None	None	None	None	I
P/E	0.1621	likely_benign	0.1586	benign	-0.363	Destabilizing	None	N	0.12	neutral	None	None	None	None	I
P/F	0.287	likely_benign	0.2819	benign	-0.664	Destabilizing	0.671	D	0.233	neutral	None	None	None	None	I
P/G	0.2398	likely_benign	0.2481	benign	-0.485	Destabilizing	0.012	N	0.281	neutral	None	None	None	None	I
P/H	0.1308	likely_benign	0.1174	benign	-0.038	Destabilizing	0.366	N	0.255	neutral	D	0.532558112	None	None	I
P/I	0.1768	likely_benign	0.1818	benign	-0.288	Destabilizing	0.223	N	0.229	neutral	None	None	None	None	I
P/K	0.2341	likely_benign	0.2096	benign	-0.412	Destabilizing	0.056	N	0.273	neutral	None	None	None	None	I
P/L	0.0949	likely_benign	0.0884	benign	-0.288	Destabilizing	0.043	N	0.233	neutral	N	0.509950611	None	None	I
P/M	0.2198	likely_benign	0.2276	benign	-0.472	Destabilizing	0.699	D	0.257	neutral	None	None	None	None	I
P/N	0.2044	likely_benign	0.2082	benign	-0.223	Destabilizing	0.018	N	0.272	neutral	None	None	None	None	I
P/Q	0.1203	likely_benign	0.1139	benign	-0.437	Destabilizing	0.097	N	0.293	neutral	None	None	None	None	I
P/R	0.1556	likely_benign	0.1328	benign	0.074	Stabilizing	0.178	N	0.269	neutral	N	0.499733617	None	None	I
P/S	0.0852	likely_benign	0.0893	benign	-0.562	Destabilizing	None	N	0.109	neutral	N	0.419576536	None	None	I
P/T	0.0836	likely_benign	0.0812	benign	-0.577	Destabilizing	0.006	N	0.273	neutral	N	0.49182621	None	None	I
P/V	0.141	likely_benign	0.1339	benign	-0.29	Destabilizing	0.01	N	0.227	neutral	None	None	None	None	I
P/W	0.4558	ambiguous	0.4465	ambiguous	-0.733	Destabilizing	0.959	D	0.23	neutral	None	None	None	None	I
P/Y	0.2694	likely_benign	0.2589	benign	-0.449	Destabilizing	0.671	D	0.233	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.