TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3903	11932;11933;11934	chr2:178741526;178741525;178741524	chr2:179606253;179606252;179606251
N2AB	3586	10981;10982;10983	chr2:178741526;178741525;178741524	chr2:179606253;179606252;179606251
N2A	None	None	chr2:None	chr2:None
N2B	3540	10843;10844;10845	chr2:178741526;178741525;178741524	chr2:179606253;179606252;179606251
Novex-1	3665	11218;11219;11220	chr2:178741526;178741525;178741524	chr2:179606253;179606252;179606251
Novex-2	3732	11419;11420;11421	chr2:178741526;178741525;178741524	chr2:179606253;179606252;179606251
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: C
• RefSeq wild type transcript codon: TGT
• RefSeq wild type template codon: ACA
• Domain: Ig-27
• Domain position: 84
• Structural Position: 169
• Q(SASA): 0.1212
• Predicted PPI site: I

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
C/R	None	None	0.901	N	0.881	0.457	None	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-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
C/A	0.5964	likely_pathogenic	0.5898	pathogenic	-1.636	Destabilizing	0.415	N	0.592	neutral	None	None	None	None	I
C/D	0.9254	likely_pathogenic	0.9258	pathogenic	0.03	Stabilizing	0.923	D	0.847	deleterious	None	None	None	None	I
C/E	0.9683	likely_pathogenic	0.9649	pathogenic	0.149	Stabilizing	0.923	D	0.869	deleterious	None	None	None	None	I
C/F	0.5734	likely_pathogenic	0.548	ambiguous	-1.012	Destabilizing	0.949	D	0.827	deleterious	D	0.63847793	None	None	I
C/G	0.3525	ambiguous	0.3359	benign	-1.952	Destabilizing	0.565	D	0.816	deleterious	N	0.50917363	None	None	I
C/H	0.8336	likely_pathogenic	0.8166	pathogenic	-1.913	Destabilizing	0.989	D	0.844	deleterious	None	None	None	None	I
C/I	0.8156	likely_pathogenic	0.779	pathogenic	-0.82	Destabilizing	0.961	D	0.802	deleterious	None	None	None	None	I
C/K	0.9483	likely_pathogenic	0.9463	pathogenic	-0.623	Destabilizing	0.858	D	0.837	deleterious	None	None	None	None	I
C/L	0.794	likely_pathogenic	0.7736	pathogenic	-0.82	Destabilizing	0.775	D	0.728	prob.delet.	None	None	None	None	I
C/M	0.9197	likely_pathogenic	0.9032	pathogenic	-0.004	Destabilizing	0.996	D	0.801	deleterious	None	None	None	None	I
C/N	0.8448	likely_pathogenic	0.8195	pathogenic	-0.703	Destabilizing	0.858	D	0.871	deleterious	None	None	None	None	I
C/P	0.9936	likely_pathogenic	0.9934	pathogenic	-1.065	Destabilizing	0.961	D	0.881	deleterious	None	None	None	None	I
C/Q	0.8911	likely_pathogenic	0.8786	pathogenic	-0.538	Destabilizing	0.923	D	0.879	deleterious	None	None	None	None	I
C/R	0.6926	likely_pathogenic	0.7009	pathogenic	-0.622	Destabilizing	0.901	D	0.881	deleterious	N	0.507473517	None	None	I
C/S	0.4407	ambiguous	0.3875	ambiguous	-1.272	Destabilizing	0.034	N	0.525	neutral	N	0.475347172	None	None	I
C/T	0.684	likely_pathogenic	0.6173	pathogenic	-0.954	Destabilizing	0.633	D	0.75	deleterious	None	None	None	None	I
C/V	0.7468	likely_pathogenic	0.7078	pathogenic	-1.065	Destabilizing	0.775	D	0.786	deleterious	None	None	None	None	I
C/W	0.8892	likely_pathogenic	0.8733	pathogenic	-1.0	Destabilizing	0.995	D	0.801	deleterious	N	0.507875839	None	None	I
C/Y	0.7132	likely_pathogenic	0.6991	pathogenic	-0.962	Destabilizing	0.983	D	0.833	deleterious	D	0.615647741	None	None	I

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.