TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26685	80278;80279;80280	chr2:178566079;178566078;178566077	chr2:179430806;179430805;179430804
N2AB	25044	75355;75356;75357	chr2:178566079;178566078;178566077	chr2:179430806;179430805;179430804
N2A	24117	72574;72575;72576	chr2:178566079;178566078;178566077	chr2:179430806;179430805;179430804
N2B	17620	53083;53084;53085	chr2:178566079;178566078;178566077	chr2:179430806;179430805;179430804
Novex-1	17745	53458;53459;53460	chr2:178566079;178566078;178566077	chr2:179430806;179430805;179430804
Novex-2	17812	53659;53660;53661	chr2:178566079;178566078;178566077	chr2:179430806;179430805;179430804
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Fn3-82
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.177
• 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
G/E	rs773930240	-2.06	1.0	N	0.845	0.473	0.467247493403	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	5.57E-05	None	0	None	0	0	0
G/E	rs773930240	-2.06	1.0	N	0.845	0.473	0.467247493403	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	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
G/A	0.4531	ambiguous	0.4248	ambiguous	-0.9	Destabilizing	1.0	D	0.723	prob.delet.	N	0.470354826	None	None	N
G/C	0.7962	likely_pathogenic	0.7474	pathogenic	-1.32	Destabilizing	1.0	D	0.783	deleterious	None	None	None	None	N
G/D	0.943	likely_pathogenic	0.9248	pathogenic	-2.177	Highly Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
G/E	0.9544	likely_pathogenic	0.9329	pathogenic	-2.181	Highly Destabilizing	1.0	D	0.845	deleterious	N	0.51279108	None	None	N
G/F	0.97	likely_pathogenic	0.9511	pathogenic	-1.121	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
G/H	0.9763	likely_pathogenic	0.9635	pathogenic	-1.435	Destabilizing	1.0	D	0.798	deleterious	None	None	None	None	N
G/I	0.9684	likely_pathogenic	0.9527	pathogenic	-0.416	Destabilizing	1.0	D	0.848	deleterious	None	None	None	None	N
G/K	0.988	likely_pathogenic	0.979	pathogenic	-1.312	Destabilizing	1.0	D	0.848	deleterious	None	None	None	None	N
G/L	0.9279	likely_pathogenic	0.903	pathogenic	-0.416	Destabilizing	1.0	D	0.853	deleterious	None	None	None	None	N
G/M	0.9606	likely_pathogenic	0.9438	pathogenic	-0.522	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
G/N	0.9287	likely_pathogenic	0.9115	pathogenic	-1.242	Destabilizing	1.0	D	0.823	deleterious	None	None	None	None	N
G/P	0.9969	likely_pathogenic	0.9962	pathogenic	-0.539	Destabilizing	1.0	D	0.852	deleterious	None	None	None	None	N
G/Q	0.9556	likely_pathogenic	0.9347	pathogenic	-1.419	Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	N
G/R	0.9706	likely_pathogenic	0.952	pathogenic	-1.046	Destabilizing	1.0	D	0.855	deleterious	N	0.514312018	None	None	N
G/S	0.3053	likely_benign	0.2848	benign	-1.449	Destabilizing	1.0	D	0.777	deleterious	None	None	None	None	N
G/T	0.8572	likely_pathogenic	0.8036	pathogenic	-1.387	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
G/V	0.942	likely_pathogenic	0.9204	pathogenic	-0.539	Destabilizing	1.0	D	0.858	deleterious	N	0.515325976	None	None	N
G/W	0.9645	likely_pathogenic	0.9416	pathogenic	-1.538	Destabilizing	1.0	D	0.773	deleterious	None	None	None	None	N
G/Y	0.961	likely_pathogenic	0.9379	pathogenic	-1.106	Destabilizing	1.0	D	0.839	deleterious	None	None	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.