TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	25181	75766;75767;75768	chr2:178570591;178570590;178570589	chr2:179435318;179435317;179435316
N2AB	23540	70843;70844;70845	chr2:178570591;178570590;178570589	chr2:179435318;179435317;179435316
N2A	22613	68062;68063;68064	chr2:178570591;178570590;178570589	chr2:179435318;179435317;179435316
N2B	16116	48571;48572;48573	chr2:178570591;178570590;178570589	chr2:179435318;179435317;179435316
Novex-1	16241	48946;48947;48948	chr2:178570591;178570590;178570589	chr2:179435318;179435317;179435316
Novex-2	16308	49147;49148;49149	chr2:178570591;178570590;178570589	chr2:179435318;179435317;179435316
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-134
• Domain position: 71
• Structural Position: 153
• Q(SASA): 0.6217
• 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
N/H	None	None	None	N	0.113	0.187	0.239305524855	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
N/A	0.1238	likely_benign	0.1355	benign	-1.028	Destabilizing	0.007	N	0.3	neutral	None	None	None	None	N
N/C	0.1278	likely_benign	0.1437	benign	-0.036	Destabilizing	0.676	D	0.473	neutral	None	None	None	None	N
N/D	0.1196	likely_benign	0.1318	benign	-0.178	Destabilizing	0.012	N	0.25	neutral	N	0.473317807	None	None	N
N/E	0.1956	likely_benign	0.2442	benign	-0.109	Destabilizing	0.007	N	0.167	neutral	None	None	None	None	N
N/F	0.2978	likely_benign	0.331	benign	-0.899	Destabilizing	0.356	N	0.535	neutral	None	None	None	None	N
N/G	0.2167	likely_benign	0.2354	benign	-1.335	Destabilizing	0.016	N	0.203	neutral	None	None	None	None	N
N/H	0.0732	likely_benign	0.0775	benign	-1.018	Destabilizing	None	N	0.113	neutral	N	0.47633947	None	None	N
N/I	0.0896	likely_benign	0.1017	benign	-0.258	Destabilizing	0.055	N	0.562	neutral	N	0.43300998	None	None	N
N/K	0.1383	likely_benign	0.1662	benign	-0.145	Destabilizing	None	N	0.117	neutral	N	0.434335345	None	None	N
N/L	0.1285	likely_benign	0.1367	benign	-0.258	Destabilizing	0.031	N	0.386	neutral	None	None	None	None	N
N/M	0.1842	likely_benign	0.2007	benign	0.239	Stabilizing	0.628	D	0.49	neutral	None	None	None	None	N
N/P	0.3191	likely_benign	0.3873	ambiguous	-0.486	Destabilizing	None	N	0.231	neutral	None	None	None	None	N
N/Q	0.1505	likely_benign	0.1745	benign	-0.751	Destabilizing	None	N	0.111	neutral	None	None	None	None	N
N/R	0.1571	likely_benign	0.1835	benign	-0.108	Destabilizing	0.016	N	0.253	neutral	None	None	None	None	N
N/S	0.0749	likely_benign	0.0745	benign	-0.784	Destabilizing	None	N	0.119	neutral	N	0.464004891	None	None	N
N/T	0.0768	likely_benign	0.0822	benign	-0.517	Destabilizing	0.012	N	0.243	neutral	N	0.393067512	None	None	N
N/V	0.0974	likely_benign	0.1107	benign	-0.486	Destabilizing	0.072	N	0.455	neutral	None	None	None	None	N
N/W	0.5627	ambiguous	0.6078	pathogenic	-0.603	Destabilizing	0.864	D	0.486	neutral	None	None	None	None	N
N/Y	0.1006	likely_benign	0.1174	benign	-0.429	Destabilizing	0.055	N	0.556	neutral	N	0.513953708	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.