TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	16932	51019;51020;51021	chr2:178611435;178611434;178611433	chr2:179476162;179476161;179476160
N2AB	15291	46096;46097;46098	chr2:178611435;178611434;178611433	chr2:179476162;179476161;179476160
N2A	14364	43315;43316;43317	chr2:178611435;178611434;178611433	chr2:179476162;179476161;179476160
N2B	7867	23824;23825;23826	chr2:178611435;178611434;178611433	chr2:179476162;179476161;179476160
Novex-1	7992	24199;24200;24201	chr2:178611435;178611434;178611433	chr2:179476162;179476161;179476160
Novex-2	8059	24400;24401;24402	chr2:178611435;178611434;178611433	chr2:179476162;179476161;179476160
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Fn3-11
• Domain position: 81
• Structural Position: 112
• Q(SASA): 0.0956
• 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
N/S	rs779440152	-1.552	0.999	N	0.584	0.498	0.244539031024	gnomAD-3.1.2	1.32E-05	None	None	None	None	N	None	0	0	0	0	0	None	0	0	2.94E-05	0	0
N/S	rs779440152	-1.552	0.999	N	0.584	0.498	0.244539031024	gnomAD-4.0.0	1.17808E-05	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.52632E-05	1.09806E-05	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
N/A	0.9879	likely_pathogenic	0.9979	pathogenic	-1.162	Destabilizing	1.0	D	0.782	deleterious	None	None	None	None	N
N/C	0.9203	likely_pathogenic	0.9803	pathogenic	-0.752	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
N/D	0.977	likely_pathogenic	0.9914	pathogenic	-2.068	Highly Destabilizing	0.999	D	0.601	neutral	D	0.63965837	None	None	N
N/E	0.9979	likely_pathogenic	0.9994	pathogenic	-1.87	Destabilizing	0.999	D	0.722	prob.delet.	None	None	None	None	N
N/F	0.9991	likely_pathogenic	0.9997	pathogenic	-0.787	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	N
N/G	0.9694	likely_pathogenic	0.9929	pathogenic	-1.512	Destabilizing	0.999	D	0.563	neutral	None	None	None	None	N
N/H	0.9662	likely_pathogenic	0.9901	pathogenic	-1.045	Destabilizing	1.0	D	0.771	deleterious	D	0.717685936	None	None	N
N/I	0.9947	likely_pathogenic	0.9982	pathogenic	-0.241	Destabilizing	1.0	D	0.782	deleterious	D	0.7184448	None	None	N
N/K	0.9987	likely_pathogenic	0.9996	pathogenic	-0.481	Destabilizing	1.0	D	0.747	deleterious	D	0.71641595	None	None	N
N/L	0.9739	likely_pathogenic	0.9898	pathogenic	-0.241	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
N/M	0.9903	likely_pathogenic	0.9974	pathogenic	-0.047	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	N
N/P	0.9963	likely_pathogenic	0.9987	pathogenic	-0.522	Destabilizing	1.0	D	0.779	deleterious	None	None	None	None	N
N/Q	0.9976	likely_pathogenic	0.9994	pathogenic	-1.222	Destabilizing	1.0	D	0.775	deleterious	None	None	None	None	N
N/R	0.9972	likely_pathogenic	0.9991	pathogenic	-0.519	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/S	0.6278	likely_pathogenic	0.8732	pathogenic	-1.365	Destabilizing	0.999	D	0.584	neutral	N	0.471783339	None	None	N
N/T	0.8431	likely_pathogenic	0.9758	pathogenic	-1.0	Destabilizing	0.999	D	0.713	prob.delet.	D	0.577581513	None	None	N
N/V	0.9894	likely_pathogenic	0.9972	pathogenic	-0.522	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
N/W	0.9997	likely_pathogenic	0.9999	pathogenic	-0.679	Destabilizing	1.0	D	0.782	deleterious	None	None	None	None	N
N/Y	0.9928	likely_pathogenic	0.9971	pathogenic	-0.345	Destabilizing	1.0	D	0.796	deleterious	D	0.718346497	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.