TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5607	17044;17045;17046	chr2:178732150;178732149;178732148	chr2:179596877;179596876;179596875
N2AB	5290	16093;16094;16095	chr2:178732150;178732149;178732148	chr2:179596877;179596876;179596875
N2A	4363	13312;13313;13314	chr2:178732150;178732149;178732148	chr2:179596877;179596876;179596875
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-39
• Domain position: 65
• Structural Position: 145
• Q(SASA): 0.1277
• 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/D	rs2080656904	None	None	N	0.241	0.12	0.126345400529	gnomAD-4.0.0	6.36531E-06	None	None	None	None	N	None	0	0	None	0	0	None	7.52955E-05	0	0	0	0
G/R	rs929034760	None	0.033	N	0.62	0.046	0.358134431457	gnomAD-4.0.0	2.40064E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.625E-06	0	0
G/S	None	None	None	N	0.121	0.112	0.0666544352282	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	0.0562	likely_benign	0.0601	benign	-0.86	Destabilizing	None	N	0.109	neutral	N	0.469584069	None	None	N
G/C	0.1134	likely_benign	0.1218	benign	-1.328	Destabilizing	None	N	0.425	neutral	N	0.495559949	None	None	N
G/D	0.0893	likely_benign	0.0913	benign	-1.644	Destabilizing	None	N	0.241	neutral	N	0.477568834	None	None	N
G/E	0.1015	likely_benign	0.1065	benign	-1.719	Destabilizing	None	N	0.225	neutral	None	None	None	None	N
G/F	0.2312	likely_benign	0.2519	benign	-1.346	Destabilizing	0.245	N	0.662	neutral	None	None	None	None	N
G/H	0.1717	likely_benign	0.1788	benign	-1.186	Destabilizing	0.245	N	0.639	neutral	None	None	None	None	N
G/I	0.1233	likely_benign	0.1358	benign	-0.622	Destabilizing	0.022	N	0.625	neutral	None	None	None	None	N
G/K	0.1705	likely_benign	0.1775	benign	-1.268	Destabilizing	0.009	N	0.555	neutral	None	None	None	None	N
G/L	0.136	likely_benign	0.1472	benign	-0.622	Destabilizing	0.009	N	0.541	neutral	None	None	None	None	N
G/M	0.1602	likely_benign	0.1729	benign	-0.542	Destabilizing	0.245	N	0.631	neutral	None	None	None	None	N
G/N	0.1125	likely_benign	0.112	benign	-1.09	Destabilizing	0.009	N	0.44	neutral	None	None	None	None	N
G/P	0.4485	ambiguous	0.5468	ambiguous	-0.665	Destabilizing	0.044	N	0.633	neutral	None	None	None	None	N
G/Q	0.1402	likely_benign	0.1446	benign	-1.368	Destabilizing	0.022	N	0.617	neutral	None	None	None	None	N
G/R	0.1175	likely_benign	0.1241	benign	-0.859	Destabilizing	0.033	N	0.62	neutral	N	0.4429949	None	None	N
G/S	0.0636	likely_benign	0.0619	benign	-1.324	Destabilizing	None	N	0.121	neutral	N	0.396145103	None	None	N
G/T	0.0662	likely_benign	0.0697	benign	-1.333	Destabilizing	None	N	0.221	neutral	None	None	None	None	N
G/V	0.0905	likely_benign	0.1	benign	-0.665	Destabilizing	0.007	N	0.548	neutral	N	0.481033213	None	None	N
G/W	0.2013	likely_benign	0.2279	benign	-1.584	Destabilizing	0.788	D	0.592	neutral	None	None	None	None	N
G/Y	0.1826	likely_benign	0.2007	benign	-1.205	Destabilizing	0.245	N	0.67	neutral	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.