TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9440	28543;28544;28545	chr2:178710779;178710778;178710777	chr2:179575506;179575505;179575504
N2AB	9123	27592;27593;27594	chr2:178710779;178710778;178710777	chr2:179575506;179575505;179575504
N2A	8196	24811;24812;24813	chr2:178710779;178710778;178710777	chr2:179575506;179575505;179575504
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: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-80
• Domain position: 44
• Structural Position: 73
• Q(SASA): 0.8958
• 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	rs940069606	None	1.0	None	0.751	0.448	0.5343833383	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	0.1871	likely_benign	0.1971	benign	-0.202	Destabilizing	0.999	D	0.517	neutral	None	None	None	None	N
G/C	0.4992	ambiguous	0.5095	ambiguous	-0.891	Destabilizing	1.0	D	0.811	deleterious	None	None	None	None	N
G/D	0.5125	ambiguous	0.4566	ambiguous	0.005	Stabilizing	1.0	D	0.63	neutral	None	None	None	None	N
G/E	0.5672	likely_pathogenic	0.5155	ambiguous	-0.113	Destabilizing	0.991	D	0.508	neutral	None	None	None	None	N
G/F	0.773	likely_pathogenic	0.7987	pathogenic	-0.729	Destabilizing	1.0	D	0.81	deleterious	None	None	None	None	N
G/H	0.6316	likely_pathogenic	0.6719	pathogenic	-0.358	Destabilizing	1.0	D	0.761	deleterious	None	None	None	None	N
G/I	0.5592	ambiguous	0.5856	pathogenic	-0.224	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	N
G/K	0.6645	likely_pathogenic	0.6982	pathogenic	-0.625	Destabilizing	1.0	D	0.719	prob.delet.	None	None	None	None	N
G/L	0.6234	likely_pathogenic	0.6642	pathogenic	-0.224	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
G/M	0.689	likely_pathogenic	0.7251	pathogenic	-0.526	Destabilizing	1.0	D	0.8	deleterious	None	None	None	None	N
G/N	0.4576	ambiguous	0.4739	ambiguous	-0.401	Destabilizing	1.0	D	0.633	neutral	None	None	None	None	N
G/P	0.9024	likely_pathogenic	0.9157	pathogenic	-0.183	Destabilizing	1.0	D	0.749	deleterious	None	None	None	None	N
G/Q	0.5483	ambiguous	0.5867	pathogenic	-0.547	Destabilizing	1.0	D	0.753	deleterious	None	None	None	None	N
G/R	0.4668	ambiguous	0.491	ambiguous	-0.334	Destabilizing	1.0	D	0.751	deleterious	None	None	None	None	N
G/S	0.1279	likely_benign	0.123	benign	-0.645	Destabilizing	1.0	D	0.641	neutral	None	None	None	None	N
G/T	0.2414	likely_benign	0.2605	benign	-0.666	Destabilizing	1.0	D	0.729	prob.delet.	None	None	None	None	N
G/V	0.3905	ambiguous	0.4092	ambiguous	-0.183	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
G/W	0.6387	likely_pathogenic	0.6469	pathogenic	-0.928	Destabilizing	1.0	D	0.781	deleterious	None	None	None	None	N
G/Y	0.7333	likely_pathogenic	0.7591	pathogenic	-0.555	Destabilizing	1.0	D	0.809	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.