TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8813	26662;26663;26664	chr2:178714337;178714336;178714335	chr2:179579064;179579063;179579062
N2AB	8496	25711;25712;25713	chr2:178714337;178714336;178714335	chr2:179579064;179579063;179579062
N2A	7569	22930;22931;22932	chr2:178714337;178714336;178714335	chr2:179579064;179579063;179579062
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: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-73
• Domain position: 78
• Structural Position: 161
• Q(SASA): 0.161
• 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	rs2077136991	None	0.999	N	0.561	0.622	0.372446077551	gnomAD-4.0.0	1.5916E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85915E-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
N/A	0.9755	likely_pathogenic	0.992	pathogenic	-0.694	Destabilizing	0.999	D	0.736	prob.delet.	None	None	None	None	N
N/C	0.9575	likely_pathogenic	0.9809	pathogenic	0.015	Stabilizing	1.0	D	0.672	neutral	None	None	None	None	N
N/D	0.8433	likely_pathogenic	0.9152	pathogenic	-1.04	Destabilizing	0.999	D	0.595	neutral	N	0.521975474	None	None	N
N/E	0.9869	likely_pathogenic	0.9941	pathogenic	-0.97	Destabilizing	1.0	D	0.69	prob.neutral	None	None	None	None	N
N/F	0.9974	likely_pathogenic	0.9989	pathogenic	-0.569	Destabilizing	1.0	D	0.723	prob.delet.	None	None	None	None	N
N/G	0.9174	likely_pathogenic	0.9563	pathogenic	-1.006	Destabilizing	1.0	D	0.537	neutral	None	None	None	None	N
N/H	0.9116	likely_pathogenic	0.959	pathogenic	-0.901	Destabilizing	1.0	D	0.726	prob.delet.	D	0.538220078	None	None	N
N/I	0.9747	likely_pathogenic	0.9913	pathogenic	0.086	Stabilizing	1.0	D	0.703	prob.neutral	D	0.549994457	None	None	N
N/K	0.9865	likely_pathogenic	0.9949	pathogenic	-0.323	Destabilizing	1.0	D	0.709	prob.delet.	D	0.549233989	None	None	N
N/L	0.9671	likely_pathogenic	0.9839	pathogenic	0.086	Stabilizing	1.0	D	0.706	prob.neutral	None	None	None	None	N
N/M	0.9657	likely_pathogenic	0.9843	pathogenic	0.632	Stabilizing	1.0	D	0.713	prob.delet.	None	None	None	None	N
N/P	0.9951	likely_pathogenic	0.9973	pathogenic	-0.144	Destabilizing	1.0	D	0.707	prob.neutral	None	None	None	None	N
N/Q	0.9875	likely_pathogenic	0.9954	pathogenic	-1.025	Destabilizing	1.0	D	0.722	prob.delet.	None	None	None	None	N
N/R	0.9879	likely_pathogenic	0.995	pathogenic	-0.29	Destabilizing	1.0	D	0.736	prob.delet.	None	None	None	None	N
N/S	0.5983	likely_pathogenic	0.7642	pathogenic	-0.841	Destabilizing	0.999	D	0.561	neutral	N	0.515365656	None	None	N
N/T	0.8147	likely_pathogenic	0.9109	pathogenic	-0.603	Destabilizing	0.999	D	0.679	prob.neutral	D	0.530622755	None	None	N
N/V	0.9743	likely_pathogenic	0.9906	pathogenic	-0.144	Destabilizing	0.999	D	0.709	prob.delet.	None	None	None	None	N
N/W	0.9978	likely_pathogenic	0.9991	pathogenic	-0.381	Destabilizing	1.0	D	0.671	neutral	None	None	None	None	N
N/Y	0.9507	likely_pathogenic	0.9785	pathogenic	-0.142	Destabilizing	1.0	D	0.721	prob.delet.	D	0.549740968	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.