TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7314	22165;22166;22167	chr2:178723067;178723066;178723065	chr2:179587794;179587793;179587792
N2AB	6997	21214;21215;21216	chr2:178723067;178723066;178723065	chr2:179587794;179587793;179587792
N2A	6070	18433;18434;18435	chr2:178723067;178723066;178723065	chr2:179587794;179587793;179587792
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-57
• Domain position: 85
• Structural Position: 171
• Q(SASA): 0.2975
• Predicted PPI site: I

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	rs2078695205	None	None	N	0.425	0.084	0.355865052028	gnomAD-3.1.2	6.57E-06	None	None	None	None	I	None	2.41E-05	0	0	0	0	None	0	0	0	0	0
G/R	rs2078695205	None	None	N	0.425	0.084	0.355865052028	gnomAD-4.0.0	2.56307E-06	None	None	None	None	I	None	1.69193E-05	1.69578E-05	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	0.0718	likely_benign	0.0724	benign	-0.485	Destabilizing	None	N	0.155	neutral	N	0.423523705	None	None	I
G/C	0.15	likely_benign	0.1631	benign	-0.929	Destabilizing	0.116	N	0.592	neutral	None	None	None	None	I
G/D	0.0888	likely_benign	0.1047	benign	-0.778	Destabilizing	None	N	0.214	neutral	None	None	None	None	I
G/E	0.0609	likely_benign	0.0604	benign	-0.926	Destabilizing	None	N	0.321	neutral	N	0.333499134	None	None	I
G/F	0.2779	likely_benign	0.285	benign	-1.163	Destabilizing	0.008	N	0.467	neutral	None	None	None	None	I
G/H	0.1342	likely_benign	0.1427	benign	-0.869	Destabilizing	0.018	N	0.482	neutral	None	None	None	None	I
G/I	0.1209	likely_benign	0.1187	benign	-0.499	Destabilizing	0.001	N	0.491	neutral	None	None	None	None	I
G/K	0.1151	likely_benign	0.1059	benign	-0.963	Destabilizing	None	N	0.34	neutral	None	None	None	None	I
G/L	0.1589	likely_benign	0.1628	benign	-0.499	Destabilizing	None	N	0.458	neutral	None	None	None	None	I
G/M	0.1929	likely_benign	0.1936	benign	-0.439	Destabilizing	0.018	N	0.502	neutral	None	None	None	None	I
G/N	0.1207	likely_benign	0.1423	benign	-0.599	Destabilizing	None	N	0.26	neutral	None	None	None	None	I
G/P	0.5909	likely_pathogenic	0.6089	pathogenic	-0.458	Destabilizing	0.003	N	0.439	neutral	None	None	None	None	I
G/Q	0.0953	likely_benign	0.0938	benign	-0.897	Destabilizing	None	N	0.329	neutral	None	None	None	None	I
G/R	0.0954	likely_benign	0.0886	benign	-0.545	Destabilizing	None	N	0.425	neutral	N	0.398011972	None	None	I
G/S	0.0698	likely_benign	0.075	benign	-0.763	Destabilizing	None	N	0.162	neutral	None	None	None	None	I
G/T	0.071	likely_benign	0.0704	benign	-0.842	Destabilizing	None	N	0.339	neutral	None	None	None	None	I
G/V	0.0878	likely_benign	0.0858	benign	-0.458	Destabilizing	None	N	0.405	neutral	N	0.424563855	None	None	I
G/W	0.22	likely_benign	0.2125	benign	-1.34	Destabilizing	0.316	N	0.597	neutral	None	None	None	None	I
G/Y	0.1805	likely_benign	0.2017	benign	-0.976	Destabilizing	0.008	N	0.475	neutral	None	None	None	None	I

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.