TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8029	24310;24311;24312	chr2:178719305;178719304;178719303	chr2:179584032;179584031;179584030
N2AB	7712	23359;23360;23361	chr2:178719305;178719304;178719303	chr2:179584032;179584031;179584030
N2A	6785	20578;20579;20580	chr2:178719305;178719304;178719303	chr2:179584032;179584031;179584030
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: P
• RefSeq wild type transcript codon: CCC
• RefSeq wild type template codon: GGG
• Domain: Ig-65
• Domain position: 45
• Structural Position: 102
• Q(SASA): 0.4032
• 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
P/L	rs2077977031	None	0.096	N	0.326	0.161	0.396794106654	gnomAD-4.0.0	4.77365E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.5751E-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
P/A	0.0647	likely_benign	0.0686	benign	-0.291	Destabilizing	None	N	0.186	neutral	N	0.463846522	None	None	N
P/C	0.3104	likely_benign	0.3321	benign	-0.712	Destabilizing	0.883	D	0.373	neutral	None	None	None	None	N
P/D	0.1678	likely_benign	0.1848	benign	-0.293	Destabilizing	None	N	0.164	neutral	None	None	None	None	N
P/E	0.116	likely_benign	0.1276	benign	-0.417	Destabilizing	0.001	N	0.207	neutral	None	None	None	None	N
P/F	0.2153	likely_benign	0.2377	benign	-0.694	Destabilizing	0.667	D	0.395	neutral	None	None	None	None	N
P/G	0.149	likely_benign	0.1608	benign	-0.346	Destabilizing	0.055	N	0.29	neutral	None	None	None	None	N
P/H	0.1079	likely_benign	0.114	benign	0.051	Stabilizing	0.602	D	0.343	neutral	N	0.457344624	None	None	N
P/I	0.1456	likely_benign	0.1567	benign	-0.293	Destabilizing	0.124	N	0.405	neutral	None	None	None	None	N
P/K	0.1163	likely_benign	0.1245	benign	-0.298	Destabilizing	0.124	N	0.277	neutral	None	None	None	None	N
P/L	0.0777	likely_benign	0.0788	benign	-0.293	Destabilizing	0.096	N	0.326	neutral	N	0.478797332	None	None	N
P/M	0.1527	likely_benign	0.1671	benign	-0.463	Destabilizing	0.667	D	0.345	neutral	None	None	None	None	N
P/N	0.1414	likely_benign	0.1566	benign	-0.077	Destabilizing	0.124	N	0.392	neutral	None	None	None	None	N
P/Q	0.0828	likely_benign	0.0867	benign	-0.307	Destabilizing	0.124	N	0.395	neutral	None	None	None	None	N
P/R	0.0962	likely_benign	0.0981	benign	0.167	Stabilizing	0.427	N	0.425	neutral	N	0.428733871	None	None	N
P/S	0.0774	likely_benign	0.0826	benign	-0.392	Destabilizing	0.042	N	0.285	neutral	N	0.414687138	None	None	N
P/T	0.0683	likely_benign	0.0735	benign	-0.425	Destabilizing	0.003	N	0.223	neutral	N	0.475949028	None	None	N
P/V	0.1129	likely_benign	0.1221	benign	-0.264	Destabilizing	0.004	N	0.208	neutral	None	None	None	None	N
P/W	0.2906	likely_benign	0.3108	benign	-0.744	Destabilizing	0.958	D	0.396	neutral	None	None	None	None	N
P/Y	0.2086	likely_benign	0.223	benign	-0.464	Destabilizing	0.859	D	0.395	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.