TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	13845	41758;41759;41760	chr2:178636038;178636037;178636036	chr2:179500765;179500764;179500763
N2AB	12204	36835;36836;36837	chr2:178636038;178636037;178636036	chr2:179500765;179500764;179500763
N2A	11277	34054;34055;34056	chr2:178636038;178636037;178636036	chr2:179500765;179500764;179500763
N2B	4780	14563;14564;14565	chr2:178636038;178636037;178636036	chr2:179500765;179500764;179500763
Novex-1	4905	14938;14939;14940	chr2:178636038;178636037;178636036	chr2:179500765;179500764;179500763
Novex-2	4972	15139;15140;15141	chr2:178636038;178636037;178636036	chr2:179500765;179500764;179500763
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-88
• Domain position: 66
• Structural Position: 148
• Q(SASA): 0.6189
• 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/R	None	None	0.017	N	0.443	0.055	0.0551355673512	gnomAD-4.0.0	1.36887E-06	None	None	None	None	N	None	0	0	None	0	2.52372E-05	None	0	0	8.99708E-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	0.0611	likely_benign	0.0619	benign	-0.278	Destabilizing	None	N	0.065	neutral	N	0.341127784	None	None	N
T/C	0.2607	likely_benign	0.2969	benign	-0.011	Destabilizing	0.245	N	0.282	neutral	None	None	None	None	N
T/D	0.1771	likely_benign	0.2206	benign	-0.114	Destabilizing	None	N	0.105	neutral	None	None	None	None	N
T/E	0.1772	likely_benign	0.2351	benign	-0.215	Destabilizing	None	N	0.095	neutral	None	None	None	None	N
T/F	0.091	likely_benign	0.0963	benign	-0.945	Destabilizing	None	N	0.109	neutral	None	None	None	None	N
T/G	0.1395	likely_benign	0.1383	benign	-0.347	Destabilizing	0.004	N	0.323	neutral	None	None	None	None	N
T/H	0.1239	likely_benign	0.1559	benign	-0.692	Destabilizing	None	N	0.236	neutral	None	None	None	None	N
T/I	0.1424	likely_benign	0.1878	benign	-0.214	Destabilizing	0.017	N	0.463	neutral	N	0.324578565	None	None	N
T/K	0.1469	likely_benign	0.2023	benign	-0.175	Destabilizing	0.007	N	0.313	neutral	N	0.347343612	None	None	N
T/L	0.0895	likely_benign	0.1043	benign	-0.214	Destabilizing	0.004	N	0.32	neutral	None	None	None	None	N
T/M	0.0821	likely_benign	0.0906	benign	0.145	Stabilizing	0.245	N	0.277	neutral	None	None	None	None	N
T/N	0.0776	likely_benign	0.0841	benign	0.111	Stabilizing	0.009	N	0.301	neutral	None	None	None	None	N
T/P	0.3313	likely_benign	0.3874	ambiguous	-0.211	Destabilizing	None	N	0.206	neutral	N	0.345540368	None	None	N
T/Q	0.1514	likely_benign	0.1881	benign	-0.198	Destabilizing	None	N	0.229	neutral	None	None	None	None	N
T/R	0.1199	likely_benign	0.1677	benign	0.126	Stabilizing	0.017	N	0.443	neutral	N	0.344184609	None	None	N
T/S	0.0714	likely_benign	0.0689	benign	-0.04	Destabilizing	None	N	0.04	neutral	N	0.331911924	None	None	N
T/V	0.1199	likely_benign	0.1418	benign	-0.211	Destabilizing	0.009	N	0.18	neutral	None	None	None	None	N
T/W	0.3412	ambiguous	0.3699	ambiguous	-0.981	Destabilizing	None	N	0.211	neutral	None	None	None	None	N
T/Y	0.1328	likely_benign	0.1309	benign	-0.675	Destabilizing	None	N	0.229	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.