TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9184	27775;27776;27777	chr2:178712372;178712371;178712370	chr2:179577099;179577098;179577097
N2AB	8867	26824;26825;26826	chr2:178712372;178712371;178712370	chr2:179577099;179577098;179577097
N2A	7940	24043;24044;24045	chr2:178712372;178712371;178712370	chr2:179577099;179577098;179577097
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: C
• RefSeq wild type transcript codon: TGC
• RefSeq wild type template codon: ACG
• Domain: Ig-77
• Domain position: 73
• Structural Position: 156
• Q(SASA): 0.0673
• 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
C/Y	rs752178779	-1.449	1.0	D	0.915	0.715	0.824375450487	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	5.56E-05	None	0	None	0	0	0
C/Y	rs752178779	-1.449	1.0	D	0.915	0.715	0.824375450487	gnomAD-4.0.0	1.59128E-06	None	None	None	None	N	None	0	0	None	0	2.77269E-05	None	0	0	0	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	0.7833	likely_pathogenic	0.7808	pathogenic	-1.429	Destabilizing	0.998	D	0.728	prob.delet.	None	None	None	None	N
C/D	0.9981	likely_pathogenic	0.9974	pathogenic	-1.308	Destabilizing	1.0	D	0.893	deleterious	None	None	None	None	N
C/E	0.9988	likely_pathogenic	0.9984	pathogenic	-1.051	Destabilizing	1.0	D	0.912	deleterious	None	None	None	None	N
C/F	0.655	likely_pathogenic	0.6002	pathogenic	-0.843	Destabilizing	1.0	D	0.905	deleterious	D	0.563181777	None	None	N
C/G	0.6429	likely_pathogenic	0.5938	pathogenic	-1.792	Destabilizing	1.0	D	0.881	deleterious	D	0.564702714	None	None	N
C/H	0.9925	likely_pathogenic	0.989	pathogenic	-1.966	Destabilizing	1.0	D	0.904	deleterious	None	None	None	None	N
C/I	0.7019	likely_pathogenic	0.6933	pathogenic	-0.434	Destabilizing	1.0	D	0.832	deleterious	None	None	None	None	N
C/K	0.9993	likely_pathogenic	0.999	pathogenic	-0.649	Destabilizing	1.0	D	0.892	deleterious	None	None	None	None	N
C/L	0.594	likely_pathogenic	0.577	pathogenic	-0.434	Destabilizing	0.999	D	0.769	deleterious	None	None	None	None	N
C/M	0.863	likely_pathogenic	0.8571	pathogenic	0.195	Stabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
C/N	0.9883	likely_pathogenic	0.9839	pathogenic	-1.367	Destabilizing	1.0	D	0.911	deleterious	None	None	None	None	N
C/P	0.9988	likely_pathogenic	0.9984	pathogenic	-0.745	Destabilizing	1.0	D	0.911	deleterious	None	None	None	None	N
C/Q	0.9952	likely_pathogenic	0.9937	pathogenic	-0.83	Destabilizing	1.0	D	0.923	deleterious	None	None	None	None	N
C/R	0.9906	likely_pathogenic	0.9867	pathogenic	-1.247	Destabilizing	1.0	D	0.916	deleterious	D	0.564702714	None	None	N
C/S	0.8659	likely_pathogenic	0.84	pathogenic	-1.615	Destabilizing	1.0	D	0.82	deleterious	D	0.564702714	None	None	N
C/T	0.9013	likely_pathogenic	0.8918	pathogenic	-1.17	Destabilizing	1.0	D	0.827	deleterious	None	None	None	None	N
C/V	0.6165	likely_pathogenic	0.6257	pathogenic	-0.745	Destabilizing	0.999	D	0.795	deleterious	None	None	None	None	N
C/W	0.9705	likely_pathogenic	0.956	pathogenic	-1.244	Destabilizing	1.0	D	0.88	deleterious	D	0.564702714	None	None	N
C/Y	0.9013	likely_pathogenic	0.8586	pathogenic	-1.015	Destabilizing	1.0	D	0.915	deleterious	D	0.564702714	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.