TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5853	17782;17783;17784	chr2:178731108;178731107;178731106	chr2:179595835;179595834;179595833
N2AB	5536	16831;16832;16833	chr2:178731108;178731107;178731106	chr2:179595835;179595834;179595833
N2A	4609	14050;14051;14052	chr2:178731108;178731107;178731106	chr2:179595835;179595834;179595833
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-42
• Domain position: 31
• Structural Position: 45
• Q(SASA): 0.418
• 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/I	rs2154308873	None	None	N	0.315	0.155	0.277730125212	gnomAD-4.0.0	4.1054E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.39702E-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	0.0675	likely_benign	0.0729	benign	-0.418	Destabilizing	0.005	N	0.245	neutral	D	0.524111987	None	None	N
T/C	0.3098	likely_benign	0.3409	ambiguous	-0.373	Destabilizing	0.676	D	0.473	neutral	None	None	None	None	N
T/D	0.2714	likely_benign	0.3124	benign	0.05	Stabilizing	0.038	N	0.442	neutral	None	None	None	None	N
T/E	0.2064	likely_benign	0.2423	benign	0.018	Stabilizing	0.038	N	0.45	neutral	None	None	None	None	N
T/F	0.1584	likely_benign	0.1723	benign	-0.702	Destabilizing	0.214	N	0.517	neutral	None	None	None	None	N
T/G	0.1988	likely_benign	0.2054	benign	-0.618	Destabilizing	0.038	N	0.461	neutral	None	None	None	None	N
T/H	0.1546	likely_benign	0.1769	benign	-0.892	Destabilizing	0.356	N	0.491	neutral	None	None	None	None	N
T/I	0.1093	likely_benign	0.1177	benign	0.001	Stabilizing	None	N	0.315	neutral	N	0.519418243	None	None	N
T/K	0.1138	likely_benign	0.1349	benign	-0.523	Destabilizing	None	N	0.201	neutral	N	0.472797732	None	None	N
T/L	0.0847	likely_benign	0.0875	benign	0.001	Stabilizing	0.006	N	0.407	neutral	None	None	None	None	N
T/M	0.0814	likely_benign	0.0843	benign	0.027	Stabilizing	0.214	N	0.504	neutral	None	None	None	None	N
T/N	0.1004	likely_benign	0.1082	benign	-0.402	Destabilizing	0.038	N	0.301	neutral	None	None	None	None	N
T/P	0.2332	likely_benign	0.286	benign	-0.107	Destabilizing	0.055	N	0.574	neutral	N	0.512750715	None	None	N
T/Q	0.1513	likely_benign	0.1748	benign	-0.542	Destabilizing	0.038	N	0.574	neutral	None	None	None	None	N
T/R	0.0953	likely_benign	0.1151	benign	-0.292	Destabilizing	None	N	0.313	neutral	N	0.486671107	None	None	N
T/S	0.0845	likely_benign	0.088	benign	-0.603	Destabilizing	None	N	0.122	neutral	N	0.477510119	None	None	N
T/V	0.1027	likely_benign	0.1075	benign	-0.107	Destabilizing	None	N	0.149	neutral	None	None	None	None	N
T/W	0.4216	ambiguous	0.4712	ambiguous	-0.722	Destabilizing	0.864	D	0.526	neutral	None	None	None	None	N
T/Y	0.1886	likely_benign	0.2079	benign	-0.444	Destabilizing	0.356	N	0.5	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.