TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29316	88171;88172;88173	chr2:178557316;178557315;178557314	chr2:179422043;179422042;179422041
N2AB	27675	83248;83249;83250	chr2:178557316;178557315;178557314	chr2:179422043;179422042;179422041
N2A	26748	80467;80468;80469	chr2:178557316;178557315;178557314	chr2:179422043;179422042;179422041
N2B	20251	60976;60977;60978	chr2:178557316;178557315;178557314	chr2:179422043;179422042;179422041
Novex-1	20376	61351;61352;61353	chr2:178557316;178557315;178557314	chr2:179422043;179422042;179422041
Novex-2	20443	61552;61553;61554	chr2:178557316;178557315;178557314	chr2:179422043;179422042;179422041
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: Fn3-101
• Domain position: 80
• Structural Position: 112
• Q(SASA): 0.1136
• 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	rs2154155539	None	0.999	N	0.58	0.525	0.332646915603	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	0	0	0	0	0	None	0	0	1.47E-05	0	0
N/S	rs2154155539	None	0.999	N	0.58	0.525	0.332646915603	gnomAD-4.0.0	6.56349E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.46972E-05	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	0.9981	likely_pathogenic	0.9985	pathogenic	-0.03	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
N/C	0.9825	likely_pathogenic	0.9868	pathogenic	-0.216	Destabilizing	1.0	D	0.775	deleterious	None	None	None	None	N
N/D	0.9913	likely_pathogenic	0.9911	pathogenic	-2.187	Highly Destabilizing	0.999	D	0.598	neutral	D	0.535879902	None	None	N
N/E	0.9988	likely_pathogenic	0.9988	pathogenic	-2.092	Highly Destabilizing	0.999	D	0.718	prob.delet.	None	None	None	None	N
N/F	0.9996	likely_pathogenic	0.9996	pathogenic	-0.354	Destabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
N/G	0.9944	likely_pathogenic	0.9948	pathogenic	-0.276	Destabilizing	0.999	D	0.557	neutral	None	None	None	None	N
N/H	0.9904	likely_pathogenic	0.9916	pathogenic	-0.221	Destabilizing	1.0	D	0.773	deleterious	D	0.543477225	None	None	N
N/I	0.9956	likely_pathogenic	0.9956	pathogenic	0.553	Stabilizing	1.0	D	0.776	deleterious	D	0.555505094	None	None	N
N/K	0.9991	likely_pathogenic	0.9991	pathogenic	0.147	Stabilizing	1.0	D	0.741	deleterious	D	0.536133391	None	None	N
N/L	0.9904	likely_pathogenic	0.9915	pathogenic	0.553	Stabilizing	1.0	D	0.775	deleterious	None	None	None	None	N
N/M	0.9949	likely_pathogenic	0.9951	pathogenic	0.821	Stabilizing	1.0	D	0.809	deleterious	None	None	None	None	N
N/P	0.9994	likely_pathogenic	0.9994	pathogenic	0.387	Stabilizing	1.0	D	0.774	deleterious	None	None	None	None	N
N/Q	0.9993	likely_pathogenic	0.9994	pathogenic	-0.979	Destabilizing	1.0	D	0.775	deleterious	None	None	None	None	N
N/R	0.9986	likely_pathogenic	0.9989	pathogenic	0.316	Stabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/S	0.9575	likely_pathogenic	0.9681	pathogenic	-0.531	Destabilizing	0.999	D	0.58	neutral	N	0.513430326	None	None	N
N/T	0.9728	likely_pathogenic	0.9812	pathogenic	-0.305	Destabilizing	0.999	D	0.707	prob.neutral	N	0.509374493	None	None	N
N/V	0.9937	likely_pathogenic	0.9951	pathogenic	0.387	Stabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
N/W	0.9999	likely_pathogenic	0.9999	pathogenic	-0.425	Destabilizing	1.0	D	0.778	deleterious	None	None	None	None	N
N/Y	0.9946	likely_pathogenic	0.9951	pathogenic	0.101	Stabilizing	1.0	D	0.792	deleterious	D	0.555251604	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.