TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9650	29173;29174;29175	chr2:178707619;178707618;178707617	chr2:179572346;179572345;179572344
N2AB	9333	28222;28223;28224	chr2:178707619;178707618;178707617	chr2:179572346;179572345;179572344
N2A	8406	25441;25442;25443	chr2:178707619;178707618;178707617	chr2:179572346;179572345;179572344
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: R
• RefSeq wild type transcript codon: AGA
• RefSeq wild type template codon: TCT
• Domain: Ig-82
• Domain position: 61
• Structural Position: 141
• Q(SASA): 0.4886
• 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
R/G	None	None	0.001	None	0.285	0.152	0.461495907335	gnomAD-4.0.0	1.59115E-06	None	None	None	None	N	None	0	0	None	0	2.77285E-05	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
R/A	0.2321	likely_benign	0.175	benign	-0.939	Destabilizing	None	N	0.125	neutral	None	None	None	None	N
R/C	0.2663	likely_benign	0.2014	benign	-0.829	Destabilizing	0.497	N	0.365	neutral	None	None	None	None	N
R/D	0.5291	ambiguous	0.4167	ambiguous	0.035	Stabilizing	0.008	N	0.343	neutral	None	None	None	None	N
R/E	0.253	likely_benign	0.1862	benign	0.181	Stabilizing	0.002	N	0.176	neutral	None	None	None	None	N
R/F	0.4715	ambiguous	0.3576	ambiguous	-0.657	Destabilizing	0.085	N	0.456	neutral	None	None	None	None	N
R/G	0.1503	likely_benign	0.1126	benign	-1.27	Destabilizing	0.001	N	0.285	neutral	None	None	None	None	N
R/H	0.1081	likely_benign	0.101	benign	-1.54	Destabilizing	0.245	N	0.254	neutral	None	None	None	None	N
R/I	0.2289	likely_benign	0.1717	benign	-0.039	Destabilizing	0.014	N	0.429	neutral	None	None	None	None	N
R/K	0.0609	likely_benign	0.0591	benign	-0.789	Destabilizing	None	N	0.093	neutral	None	None	None	None	N
R/L	0.1861	likely_benign	0.1438	benign	-0.039	Destabilizing	0.008	N	0.307	neutral	None	None	None	None	N
R/M	0.1832	likely_benign	0.1464	benign	-0.414	Destabilizing	0.245	N	0.342	neutral	None	None	None	None	N
R/N	0.3308	likely_benign	0.2732	benign	-0.296	Destabilizing	0.008	N	0.175	neutral	None	None	None	None	N
R/P	0.4566	ambiguous	0.382	ambiguous	-0.318	Destabilizing	0.037	N	0.373	neutral	None	None	None	None	N
R/Q	0.0948	likely_benign	0.0822	benign	-0.423	Destabilizing	None	N	0.095	neutral	None	None	None	None	N
R/S	0.261	likely_benign	0.2	benign	-1.137	Destabilizing	None	N	0.119	neutral	None	None	None	None	N
R/T	0.1356	likely_benign	0.1062	benign	-0.793	Destabilizing	None	N	0.136	neutral	None	None	None	None	N
R/V	0.3	likely_benign	0.2203	benign	-0.318	Destabilizing	0.004	N	0.373	neutral	None	None	None	None	N
R/W	0.177	likely_benign	0.1351	benign	-0.263	Destabilizing	0.788	D	0.341	neutral	None	None	None	None	N
R/Y	0.3859	ambiguous	0.2988	benign	-0.003	Destabilizing	0.085	N	0.458	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.