TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	24767	74524;74525;74526	chr2:178571833;178571832;178571831	chr2:179436560;179436559;179436558
N2AB	23126	69601;69602;69603	chr2:178571833;178571832;178571831	chr2:179436560;179436559;179436558
N2A	22199	66820;66821;66822	chr2:178571833;178571832;178571831	chr2:179436560;179436559;179436558
N2B	15702	47329;47330;47331	chr2:178571833;178571832;178571831	chr2:179436560;179436559;179436558
Novex-1	15827	47704;47705;47706	chr2:178571833;178571832;178571831	chr2:179436560;179436559;179436558
Novex-2	15894	47905;47906;47907	chr2:178571833;178571832;178571831	chr2:179436560;179436559;179436558
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-133
• Domain position: 52
• Structural Position: 130
• Q(SASA): 0.5417
• 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/A	None	None	0.058	D	0.228	0.115	0.168933306366	gnomAD-4.0.0	1.5917E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.8593E-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
T/A	0.0948	likely_benign	0.0912	benign	-0.498	Destabilizing	0.058	N	0.228	neutral	D	0.522573192	None	None	N
T/C	0.3847	ambiguous	0.3609	ambiguous	-0.245	Destabilizing	0.998	D	0.419	neutral	None	None	None	None	N
T/D	0.2632	likely_benign	0.2707	benign	0.306	Stabilizing	0.956	D	0.331	neutral	None	None	None	None	N
T/E	0.2759	likely_benign	0.2675	benign	0.234	Stabilizing	0.86	D	0.325	neutral	None	None	None	None	N
T/F	0.2535	likely_benign	0.2402	benign	-0.982	Destabilizing	0.978	D	0.518	neutral	None	None	None	None	N
T/G	0.1399	likely_benign	0.138	benign	-0.634	Destabilizing	0.754	D	0.403	neutral	None	None	None	None	N
T/H	0.2197	likely_benign	0.2135	benign	-0.94	Destabilizing	0.998	D	0.533	neutral	None	None	None	None	N
T/I	0.2183	likely_benign	0.213	benign	-0.257	Destabilizing	0.97	D	0.367	neutral	N	0.497533295	None	None	N
T/K	0.156	likely_benign	0.1439	benign	-0.323	Destabilizing	0.822	D	0.339	neutral	D	0.528016297	None	None	N
T/L	0.1094	likely_benign	0.1053	benign	-0.257	Destabilizing	0.86	D	0.334	neutral	None	None	None	None	N
T/M	0.1157	likely_benign	0.1074	benign	0.005	Stabilizing	0.998	D	0.385	neutral	None	None	None	None	N
T/N	0.1008	likely_benign	0.1062	benign	-0.107	Destabilizing	0.956	D	0.312	neutral	None	None	None	None	N
T/P	0.3037	likely_benign	0.3176	benign	-0.309	Destabilizing	0.97	D	0.371	neutral	N	0.502306235	None	None	N
T/Q	0.2281	likely_benign	0.2093	benign	-0.342	Destabilizing	0.956	D	0.357	neutral	None	None	None	None	N
T/R	0.1408	likely_benign	0.125	benign	-0.065	Destabilizing	0.942	D	0.367	neutral	D	0.528325728	None	None	N
T/S	0.0773	likely_benign	0.0784	benign	-0.367	Destabilizing	0.058	N	0.214	neutral	N	0.466218477	None	None	N
T/V	0.1541	likely_benign	0.1512	benign	-0.309	Destabilizing	0.86	D	0.303	neutral	None	None	None	None	N
T/W	0.5517	ambiguous	0.516	ambiguous	-0.952	Destabilizing	0.998	D	0.605	neutral	None	None	None	None	N
T/Y	0.294	likely_benign	0.2828	benign	-0.678	Destabilizing	0.993	D	0.51	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.