TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20810	62653;62654;62655	chr2:178589297;178589296;178589295	chr2:179454024;179454023;179454022
N2AB	19169	57730;57731;57732	chr2:178589297;178589296;178589295	chr2:179454024;179454023;179454022
N2A	18242	54949;54950;54951	chr2:178589297;178589296;178589295	chr2:179454024;179454023;179454022
N2B	11745	35458;35459;35460	chr2:178589297;178589296;178589295	chr2:179454024;179454023;179454022
Novex-1	11870	35833;35834;35835	chr2:178589297;178589296;178589295	chr2:179454024;179454023;179454022
Novex-2	11937	36034;36035;36036	chr2:178589297;178589296;178589295	chr2:179454024;179454023;179454022
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-122
• Domain position: 42
• Structural Position: 55
• Q(SASA): 0.1968
• 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	0.81	N	0.652	0.148	0.346768085243	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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	0.0646	likely_benign	0.0654	benign	-0.31	Destabilizing	0.002	N	0.235	neutral	N	0.478992986	None	None	N
T/C	0.3436	ambiguous	0.4021	ambiguous	-0.204	Destabilizing	0.977	D	0.593	neutral	None	None	None	None	N
T/D	0.2989	likely_benign	0.3376	benign	0.238	Stabilizing	0.447	N	0.603	neutral	None	None	None	None	N
T/E	0.2466	likely_benign	0.2733	benign	0.158	Stabilizing	0.005	N	0.405	neutral	None	None	None	None	N
T/F	0.2417	likely_benign	0.2933	benign	-0.844	Destabilizing	0.92	D	0.613	neutral	None	None	None	None	N
T/G	0.1363	likely_benign	0.1435	benign	-0.426	Destabilizing	0.002	N	0.425	neutral	None	None	None	None	N
T/H	0.2646	likely_benign	0.2875	benign	-0.71	Destabilizing	0.92	D	0.591	neutral	None	None	None	None	N
T/I	0.1597	likely_benign	0.2038	benign	-0.126	Destabilizing	0.81	D	0.652	neutral	N	0.450307662	None	None	N
T/K	0.1895	likely_benign	0.2037	benign	-0.304	Destabilizing	0.379	N	0.59	neutral	N	0.458751	None	None	N
T/L	0.0995	likely_benign	0.1148	benign	-0.126	Destabilizing	0.447	N	0.594	neutral	None	None	None	None	N
T/M	0.1003	likely_benign	0.1098	benign	0.012	Stabilizing	0.972	D	0.603	neutral	None	None	None	None	N
T/N	0.1199	likely_benign	0.1331	benign	-0.042	Destabilizing	0.617	D	0.566	neutral	None	None	None	None	N
T/P	0.1131	likely_benign	0.1428	benign	-0.16	Destabilizing	0.712	D	0.639	neutral	D	0.53263547	None	None	N
T/Q	0.206	likely_benign	0.2126	benign	-0.261	Destabilizing	0.739	D	0.653	neutral	None	None	None	None	N
T/R	0.1721	likely_benign	0.1781	benign	-0.055	Destabilizing	0.81	D	0.64	neutral	N	0.46344753	None	None	N
T/S	0.0894	likely_benign	0.0929	benign	-0.255	Destabilizing	0.045	N	0.231	neutral	N	0.48562817	None	None	N
T/V	0.1131	likely_benign	0.1348	benign	-0.16	Destabilizing	0.447	N	0.569	neutral	None	None	None	None	N
T/W	0.5224	ambiguous	0.544	ambiguous	-0.871	Destabilizing	0.992	D	0.605	neutral	None	None	None	None	N
T/Y	0.2951	likely_benign	0.3476	ambiguous	-0.574	Destabilizing	0.972	D	0.617	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.