TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27721	83386;83387;83388	chr2:178562971;178562970;178562969	chr2:179427698;179427697;179427696
N2AB	26080	78463;78464;78465	chr2:178562971;178562970;178562969	chr2:179427698;179427697;179427696
N2A	25153	75682;75683;75684	chr2:178562971;178562970;178562969	chr2:179427698;179427697;179427696
N2B	18656	56191;56192;56193	chr2:178562971;178562970;178562969	chr2:179427698;179427697;179427696
Novex-1	18781	56566;56567;56568	chr2:178562971;178562970;178562969	chr2:179427698;179427697;179427696
Novex-2	18848	56767;56768;56769	chr2:178562971;178562970;178562969	chr2:179427698;179427697;179427696
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-141
• Domain position: 46
• Structural Position: 122
• Q(SASA): 0.4194
• 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
Q/H	None	None	0.999	N	0.588	0.411	0.497349015346	gnomAD-4.0.0	1.59152E-06	None	None	None	None	N	None	0	0	None	0	2.7767E-05	None	0	0	0	0	0
Q/L	None	None	0.997	D	0.538	0.517	0.575880570741	gnomAD-4.0.0	1.59152E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85851E-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
Q/A	0.2547	likely_benign	0.2521	benign	-0.271	Destabilizing	0.997	D	0.435	neutral	None	None	None	None	N
Q/C	0.7136	likely_pathogenic	0.7099	pathogenic	0.083	Stabilizing	1.0	D	0.711	prob.delet.	None	None	None	None	N
Q/D	0.4439	ambiguous	0.4386	ambiguous	0.026	Stabilizing	0.997	D	0.455	neutral	None	None	None	None	N
Q/E	0.1182	likely_benign	0.1114	benign	0.043	Stabilizing	0.992	D	0.334	neutral	N	0.479609061	None	None	N
Q/F	0.7538	likely_pathogenic	0.7541	pathogenic	-0.262	Destabilizing	0.999	D	0.731	prob.delet.	None	None	None	None	N
Q/G	0.4016	ambiguous	0.3886	ambiguous	-0.524	Destabilizing	0.997	D	0.538	neutral	None	None	None	None	N
Q/H	0.2277	likely_benign	0.225	benign	-0.334	Destabilizing	0.999	D	0.588	neutral	N	0.494098511	None	None	N
Q/I	0.3672	ambiguous	0.3637	ambiguous	0.322	Stabilizing	0.999	D	0.741	deleterious	None	None	None	None	N
Q/K	0.1285	likely_benign	0.12	benign	-0.051	Destabilizing	0.997	D	0.379	neutral	N	0.483513371	None	None	N
Q/L	0.1925	likely_benign	0.1876	benign	0.322	Stabilizing	0.997	D	0.538	neutral	D	0.525901498	None	None	N
Q/M	0.3629	ambiguous	0.3576	ambiguous	0.448	Stabilizing	0.999	D	0.587	neutral	None	None	None	None	N
Q/N	0.2788	likely_benign	0.2756	benign	-0.477	Destabilizing	0.999	D	0.545	neutral	None	None	None	None	N
Q/P	0.7134	likely_pathogenic	0.6478	pathogenic	0.155	Stabilizing	0.999	D	0.658	neutral	N	0.513902804	None	None	N
Q/R	0.1436	likely_benign	0.1376	benign	0.073	Stabilizing	0.997	D	0.437	neutral	N	0.478627626	None	None	N
Q/S	0.2636	likely_benign	0.2587	benign	-0.482	Destabilizing	0.997	D	0.404	neutral	None	None	None	None	N
Q/T	0.1972	likely_benign	0.1949	benign	-0.292	Destabilizing	0.999	D	0.597	neutral	None	None	None	None	N
Q/V	0.2399	likely_benign	0.2407	benign	0.155	Stabilizing	0.999	D	0.593	neutral	None	None	None	None	N
Q/W	0.7154	likely_pathogenic	0.7072	pathogenic	-0.216	Destabilizing	1.0	D	0.681	prob.neutral	None	None	None	None	N
Q/Y	0.5459	ambiguous	0.5416	ambiguous	0.026	Stabilizing	0.999	D	0.669	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.