TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33370	100333;100334;100335	chr2:178537001;178537000;178536999	chr2:179401728;179401727;179401726
N2AB	31729	95410;95411;95412	chr2:178537001;178537000;178536999	chr2:179401728;179401727;179401726
N2A	30802	92629;92630;92631	chr2:178537001;178537000;178536999	chr2:179401728;179401727;179401726
N2B	24305	73138;73139;73140	chr2:178537001;178537000;178536999	chr2:179401728;179401727;179401726
Novex-1	24430	73513;73514;73515	chr2:178537001;178537000;178536999	chr2:179401728;179401727;179401726
Novex-2	24497	73714;73715;73716	chr2:178537001;178537000;178536999	chr2:179401728;179401727;179401726
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: Fn3-130
• Domain position: 81
• Structural Position: 112
• Q(SASA): 0.1139
• 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/K	None	None	1.0	D	0.761	0.596	0.252162846088	gnomAD-4.0.0	6.84449E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99659E-07	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	0.9995	likely_pathogenic	0.9992	pathogenic	-0.531	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
N/C	0.9914	likely_pathogenic	0.988	pathogenic	-0.614	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	N
N/D	0.9941	likely_pathogenic	0.9919	pathogenic	-2.317	Highly Destabilizing	0.999	D	0.633	neutral	D	0.557911404	None	None	N
N/E	0.9995	likely_pathogenic	0.9994	pathogenic	-2.158	Highly Destabilizing	0.999	D	0.733	prob.delet.	None	None	None	None	N
N/F	0.9999	likely_pathogenic	0.9999	pathogenic	-0.623	Destabilizing	1.0	D	0.847	deleterious	None	None	None	None	N
N/G	0.9969	likely_pathogenic	0.9957	pathogenic	-0.805	Destabilizing	0.999	D	0.592	neutral	None	None	None	None	N
N/H	0.9963	likely_pathogenic	0.9941	pathogenic	-0.585	Destabilizing	1.0	D	0.775	deleterious	D	0.548329525	None	None	N
N/I	0.9991	likely_pathogenic	0.9985	pathogenic	0.152	Stabilizing	1.0	D	0.815	deleterious	D	0.548583014	None	None	N
N/K	0.9995	likely_pathogenic	0.9992	pathogenic	-0.099	Destabilizing	1.0	D	0.761	deleterious	D	0.558671872	None	None	N
N/L	0.997	likely_pathogenic	0.9958	pathogenic	0.152	Stabilizing	1.0	D	0.813	deleterious	None	None	None	None	N
N/M	0.9987	likely_pathogenic	0.9979	pathogenic	0.284	Stabilizing	1.0	D	0.829	deleterious	None	None	None	None	N
N/P	0.9997	likely_pathogenic	0.9996	pathogenic	-0.049	Destabilizing	1.0	D	0.808	deleterious	None	None	None	None	N
N/Q	0.9996	likely_pathogenic	0.9994	pathogenic	-1.051	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
N/R	0.9993	likely_pathogenic	0.999	pathogenic	-0.054	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	N
N/S	0.9785	likely_pathogenic	0.965	pathogenic	-0.906	Destabilizing	0.999	D	0.615	neutral	N	0.510320135	None	None	N
N/T	0.9929	likely_pathogenic	0.9858	pathogenic	-0.608	Destabilizing	0.999	D	0.729	prob.delet.	N	0.506797735	None	None	N
N/V	0.9987	likely_pathogenic	0.9978	pathogenic	-0.049	Destabilizing	1.0	D	0.824	deleterious	None	None	None	None	N
N/W	1.0	likely_pathogenic	1.0	pathogenic	-0.701	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	N
N/Y	0.9984	likely_pathogenic	0.9981	pathogenic	-0.204	Destabilizing	1.0	D	0.818	deleterious	D	0.548329525	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.