TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8844	26755;26756;26757	chr2:178714128;178714127;178714126	chr2:179578855;179578854;179578853
N2AB	8527	25804;25805;25806	chr2:178714128;178714127;178714126	chr2:179578855;179578854;179578853
N2A	7600	23023;23024;23025	chr2:178714128;178714127;178714126	chr2:179578855;179578854;179578853
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: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-74
• Domain position: 15
• Structural Position: 24
• Q(SASA): 0.2639
• 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/R	None	None	1.0	D	0.849	0.747	0.897360789159	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	None	0	0	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
G/A	0.2892	likely_benign	0.3583	ambiguous	-0.292	Destabilizing	0.997	D	0.686	prob.neutral	D	0.612914228	None	None	N
G/C	0.5735	likely_pathogenic	0.6089	pathogenic	-0.812	Destabilizing	1.0	D	0.82	deleterious	None	None	None	None	N
G/D	0.3757	ambiguous	0.4774	ambiguous	-0.608	Destabilizing	1.0	D	0.869	deleterious	None	None	None	None	N
G/E	0.3905	ambiguous	0.5107	ambiguous	-0.777	Destabilizing	1.0	D	0.845	deleterious	D	0.599661201	None	None	N
G/F	0.8211	likely_pathogenic	0.8668	pathogenic	-1.157	Destabilizing	1.0	D	0.862	deleterious	None	None	None	None	N
G/H	0.5911	likely_pathogenic	0.7193	pathogenic	-0.53	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
G/I	0.7689	likely_pathogenic	0.8467	pathogenic	-0.486	Destabilizing	1.0	D	0.864	deleterious	None	None	None	None	N
G/K	0.4846	ambiguous	0.6565	pathogenic	-0.584	Destabilizing	1.0	D	0.846	deleterious	None	None	None	None	N
G/L	0.6835	likely_pathogenic	0.7831	pathogenic	-0.486	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
G/M	0.6965	likely_pathogenic	0.7955	pathogenic	-0.335	Destabilizing	1.0	D	0.833	deleterious	None	None	None	None	N
G/N	0.37	ambiguous	0.4733	ambiguous	-0.305	Destabilizing	1.0	D	0.841	deleterious	None	None	None	None	N
G/P	0.9673	likely_pathogenic	0.9791	pathogenic	-0.391	Destabilizing	1.0	D	0.847	deleterious	None	None	None	None	N
G/Q	0.4443	ambiguous	0.5791	pathogenic	-0.638	Destabilizing	1.0	D	0.848	deleterious	None	None	None	None	N
G/R	0.3449	ambiguous	0.4778	ambiguous	-0.163	Destabilizing	1.0	D	0.849	deleterious	D	0.617294996	None	None	N
G/S	0.1575	likely_benign	0.1891	benign	-0.437	Destabilizing	0.986	D	0.575	neutral	None	None	None	None	N
G/T	0.3623	ambiguous	0.4476	ambiguous	-0.545	Destabilizing	0.999	D	0.846	deleterious	None	None	None	None	N
G/V	0.6249	likely_pathogenic	0.7207	pathogenic	-0.391	Destabilizing	1.0	D	0.845	deleterious	D	0.629337198	None	None	N
G/W	0.6422	likely_pathogenic	0.7066	pathogenic	-1.277	Destabilizing	1.0	D	0.839	deleterious	None	None	None	None	N
G/Y	0.7263	likely_pathogenic	0.7901	pathogenic	-0.91	Destabilizing	1.0	D	0.861	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.