TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7293	22102;22103;22104	chr2:178723130;178723129;178723128	chr2:179587857;179587856;179587855
N2AB	6976	21151;21152;21153	chr2:178723130;178723129;178723128	chr2:179587857;179587856;179587855
N2A	6049	18370;18371;18372	chr2:178723130;178723129;178723128	chr2:179587857;179587856;179587855
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-57
• Domain position: 64
• Structural Position: 145
• Q(SASA): 0.3299
• 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/P	rs764415612	-0.437	0.996	D	0.367	0.484	0.486135451721	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.91E-06	0
T/P	rs764415612	-0.437	0.996	D	0.367	0.484	0.486135451721	gnomAD-4.0.0	1.3686E-06	None	None	None	None	N	None	0	0	None	3.82848E-05	0	None	0	0	8.99551E-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
T/A	0.0887	likely_benign	0.0871	benign	-0.615	Destabilizing	0.826	D	0.29	neutral	N	0.49779633	None	None	N
T/C	0.4201	ambiguous	0.4137	ambiguous	-0.199	Destabilizing	0.999	D	0.375	neutral	None	None	None	None	N
T/D	0.1789	likely_benign	0.1842	benign	-0.397	Destabilizing	0.02	N	0.115	neutral	None	None	None	None	N
T/E	0.1717	likely_benign	0.1752	benign	-0.439	Destabilizing	0.17	N	0.152	neutral	None	None	None	None	N
T/F	0.2838	likely_benign	0.2788	benign	-0.911	Destabilizing	0.997	D	0.407	neutral	None	None	None	None	N
T/G	0.1732	likely_benign	0.1746	benign	-0.822	Destabilizing	0.02	N	0.152	neutral	None	None	None	None	N
T/H	0.223	likely_benign	0.2409	benign	-1.233	Destabilizing	0.997	D	0.389	neutral	None	None	None	None	N
T/I	0.2707	likely_benign	0.2441	benign	-0.168	Destabilizing	0.996	D	0.374	neutral	N	0.520966695	None	None	N
T/K	0.1483	likely_benign	0.1595	benign	-0.624	Destabilizing	0.92	D	0.297	neutral	N	0.508198385	None	None	N
T/L	0.1374	likely_benign	0.1329	benign	-0.168	Destabilizing	0.969	D	0.308	neutral	None	None	None	None	N
T/M	0.1234	likely_benign	0.1227	benign	0.33	Stabilizing	0.999	D	0.35	neutral	None	None	None	None	N
T/N	0.0957	likely_benign	0.0979	benign	-0.439	Destabilizing	0.939	D	0.223	neutral	None	None	None	None	N
T/P	0.2262	likely_benign	0.2431	benign	-0.286	Destabilizing	0.996	D	0.367	neutral	D	0.539324439	None	None	N
T/Q	0.1488	likely_benign	0.1637	benign	-0.713	Destabilizing	0.982	D	0.355	neutral	None	None	None	None	N
T/R	0.1163	likely_benign	0.1299	benign	-0.328	Destabilizing	0.976	D	0.368	neutral	N	0.485870594	None	None	N
T/S	0.0774	likely_benign	0.0792	benign	-0.639	Destabilizing	0.826	D	0.273	neutral	N	0.497560104	None	None	N
T/V	0.1878	likely_benign	0.1677	benign	-0.286	Destabilizing	0.969	D	0.212	neutral	None	None	None	None	N
T/W	0.5357	ambiguous	0.5519	ambiguous	-0.872	Destabilizing	0.999	D	0.45	neutral	None	None	None	None	N
T/Y	0.3225	likely_benign	0.3217	benign	-0.623	Destabilizing	0.997	D	0.403	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.