TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3828	11707;11708;11709	chr2:178741751;178741750;178741749	chr2:179606478;179606477;179606476
N2AB	3511	10756;10757;10758	chr2:178741751;178741750;178741749	chr2:179606478;179606477;179606476
N2A	None	None	chr2:None	chr2:None
N2B	3465	10618;10619;10620	chr2:178741751;178741750;178741749	chr2:179606478;179606477;179606476
Novex-1	3590	10993;10994;10995	chr2:178741751;178741750;178741749	chr2:179606478;179606477;179606476
Novex-2	3657	11194;11195;11196	chr2:178741751;178741750;178741749	chr2:179606478;179606477;179606476
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-27
• Domain position: 9
• Structural Position: 11
• Q(SASA): 0.5762
• 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	0.295	N	0.369	0.057	None	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
N/K	None	None	0.024	N	0.222	0.069	None	gnomAD-4.0.0	1.59162E-06	None	None	None	None	N	None	0	2.28812E-05	None	0	0	None	0	0	0	0	0
N/S	None	None	0.012	N	0.311	0.121	None	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	6.07533E-05	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	0.1844	likely_benign	0.1872	benign	-0.223	Destabilizing	0.031	N	0.277	neutral	None	None	None	None	N
N/C	0.2328	likely_benign	0.2544	benign	0.305	Stabilizing	0.864	D	0.377	neutral	None	None	None	None	N
N/D	0.0772	likely_benign	0.0703	benign	0.13	Stabilizing	None	N	0.069	neutral	N	0.369702613	None	None	N
N/E	0.3186	likely_benign	0.3034	benign	0.085	Stabilizing	0.016	N	0.3	neutral	None	None	None	None	N
N/F	0.5259	ambiguous	0.5363	ambiguous	-0.668	Destabilizing	0.628	D	0.395	neutral	None	None	None	None	N
N/G	0.2141	likely_benign	0.2111	benign	-0.371	Destabilizing	0.031	N	0.292	neutral	None	None	None	None	N
N/H	0.1025	likely_benign	0.1017	benign	-0.408	Destabilizing	0.295	N	0.369	neutral	N	0.458108791	None	None	N
N/I	0.2386	likely_benign	0.2501	benign	0.076	Stabilizing	0.295	N	0.431	neutral	N	0.453548276	None	None	N
N/K	0.2672	likely_benign	0.2502	benign	0.133	Stabilizing	0.024	N	0.222	neutral	N	0.454663573	None	None	N
N/L	0.2361	likely_benign	0.2425	benign	0.076	Stabilizing	0.072	N	0.428	neutral	None	None	None	None	N
N/M	0.3597	ambiguous	0.3592	ambiguous	0.287	Stabilizing	0.864	D	0.355	neutral	None	None	None	None	N
N/P	0.2851	likely_benign	0.3156	benign	0.002	Stabilizing	None	N	0.148	neutral	None	None	None	None	N
N/Q	0.3352	likely_benign	0.314	benign	-0.292	Destabilizing	0.072	N	0.326	neutral	None	None	None	None	N
N/R	0.2856	likely_benign	0.2721	benign	0.181	Stabilizing	0.072	N	0.322	neutral	None	None	None	None	N
N/S	0.0647	likely_benign	0.0658	benign	-0.053	Destabilizing	0.012	N	0.311	neutral	N	0.424658603	None	None	N
N/T	0.1269	likely_benign	0.1212	benign	0.036	Stabilizing	0.024	N	0.235	neutral	N	0.452332623	None	None	N
N/V	0.2372	likely_benign	0.2378	benign	0.002	Stabilizing	0.136	N	0.435	neutral	None	None	None	None	N
N/W	0.7573	likely_pathogenic	0.7701	pathogenic	-0.706	Destabilizing	0.864	D	0.508	neutral	None	None	None	None	N
N/Y	0.1619	likely_benign	0.1745	benign	-0.415	Destabilizing	0.56	D	0.385	neutral	N	0.453785179	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.