TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6669	20230;20231;20232	chr2:178727360;178727359;178727358	chr2:179592087;179592086;179592085
N2AB	6352	19279;19280;19281	chr2:178727360;178727359;178727358	chr2:179592087;179592086;179592085
N2A	5425	16498;16499;16500	chr2:178727360;178727359;178727358	chr2:179592087;179592086;179592085
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: F
• RefSeq wild type transcript codon: TTT
• RefSeq wild type template codon: AAA
• Domain: Ig-51
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1425
• 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
F/S	None	None	1.0	D	0.837	0.724	0.875463282793	gnomAD-4.0.0	1.63511E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.50281E-05	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
F/A	0.9754	likely_pathogenic	0.9794	pathogenic	-2.866	Highly Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	N
F/C	0.9729	likely_pathogenic	0.9777	pathogenic	-1.412	Destabilizing	1.0	D	0.835	deleterious	D	0.556870306	None	None	N
F/D	0.9956	likely_pathogenic	0.9965	pathogenic	-2.313	Highly Destabilizing	1.0	D	0.848	deleterious	None	None	None	None	N
F/E	0.9954	likely_pathogenic	0.9963	pathogenic	-2.218	Highly Destabilizing	1.0	D	0.849	deleterious	None	None	None	None	N
F/G	0.9935	likely_pathogenic	0.9946	pathogenic	-3.215	Highly Destabilizing	1.0	D	0.839	deleterious	None	None	None	None	N
F/H	0.9858	likely_pathogenic	0.9878	pathogenic	-1.448	Destabilizing	1.0	D	0.799	deleterious	None	None	None	None	N
F/I	0.6717	likely_pathogenic	0.7002	pathogenic	-1.77	Destabilizing	1.0	D	0.767	deleterious	N	0.494761818	None	None	N
F/K	0.9975	likely_pathogenic	0.9981	pathogenic	-1.574	Destabilizing	1.0	D	0.85	deleterious	None	None	None	None	N
F/L	0.9836	likely_pathogenic	0.9847	pathogenic	-1.77	Destabilizing	0.999	D	0.625	neutral	N	0.500236456	None	None	N
F/M	0.9003	likely_pathogenic	0.9096	pathogenic	-1.298	Destabilizing	0.999	D	0.77	deleterious	None	None	None	None	N
F/N	0.9886	likely_pathogenic	0.9898	pathogenic	-1.626	Destabilizing	1.0	D	0.852	deleterious	None	None	None	None	N
F/P	0.9942	likely_pathogenic	0.9955	pathogenic	-2.137	Highly Destabilizing	1.0	D	0.861	deleterious	None	None	None	None	N
F/Q	0.9953	likely_pathogenic	0.996	pathogenic	-1.802	Destabilizing	1.0	D	0.859	deleterious	None	None	None	None	N
F/R	0.9939	likely_pathogenic	0.9954	pathogenic	-0.776	Destabilizing	1.0	D	0.853	deleterious	None	None	None	None	N
F/S	0.9854	likely_pathogenic	0.9879	pathogenic	-2.363	Highly Destabilizing	1.0	D	0.837	deleterious	D	0.530029866	None	None	N
F/T	0.9803	likely_pathogenic	0.9833	pathogenic	-2.18	Highly Destabilizing	1.0	D	0.838	deleterious	None	None	None	None	N
F/V	0.7861	likely_pathogenic	0.8079	pathogenic	-2.137	Highly Destabilizing	1.0	D	0.753	deleterious	N	0.505730184	None	None	N
F/W	0.8648	likely_pathogenic	0.8947	pathogenic	-0.791	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
F/Y	0.6076	likely_pathogenic	0.6379	pathogenic	-1.061	Destabilizing	0.998	D	0.599	neutral	D	0.530283355	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.