TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	25869	77830;77831;77832	chr2:178568527;178568526;178568525	chr2:179433254;179433253;179433252
N2AB	24228	72907;72908;72909	chr2:178568527;178568526;178568525	chr2:179433254;179433253;179433252
N2A	23301	70126;70127;70128	chr2:178568527;178568526;178568525	chr2:179433254;179433253;179433252
N2B	16804	50635;50636;50637	chr2:178568527;178568526;178568525	chr2:179433254;179433253;179433252
Novex-1	16929	51010;51011;51012	chr2:178568527;178568526;178568525	chr2:179433254;179433253;179433252
Novex-2	16996	51211;51212;51213	chr2:178568527;178568526;178568525	chr2:179433254;179433253;179433252
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-136
• Domain position: 72
• Structural Position: 155
• Q(SASA): 0.1408
• 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	0.491	N	0.687	0.128	0.401185642668	gnomAD-4.0.0	1.20034E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31252E-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	0.0738	likely_benign	0.0691	benign	-0.378	Destabilizing	0.001	N	0.229	neutral	N	0.439198794	None	None	N
G/C	0.1112	likely_benign	0.1103	benign	-1.019	Destabilizing	0.991	D	0.685	prob.neutral	None	None	None	None	N
G/D	0.1672	likely_benign	0.159	benign	-1.291	Destabilizing	0.209	N	0.615	neutral	None	None	None	None	N
G/E	0.1284	likely_benign	0.1283	benign	-1.16	Destabilizing	0.003	N	0.497	neutral	N	0.365490469	None	None	N
G/F	0.2947	likely_benign	0.2693	benign	-0.54	Destabilizing	0.901	D	0.687	prob.neutral	None	None	None	None	N
G/H	0.189	likely_benign	0.1829	benign	-1.571	Destabilizing	0.901	D	0.661	neutral	None	None	None	None	N
G/I	0.1278	likely_benign	0.1162	benign	0.62	Stabilizing	0.818	D	0.71	prob.delet.	None	None	None	None	N
G/K	0.2245	likely_benign	0.2103	benign	-0.649	Destabilizing	0.39	N	0.641	neutral	None	None	None	None	N
G/L	0.1794	likely_benign	0.1697	benign	0.62	Stabilizing	0.39	N	0.658	neutral	None	None	None	None	N
G/M	0.2006	likely_benign	0.1844	benign	0.179	Stabilizing	0.965	D	0.68	prob.neutral	None	None	None	None	N
G/N	0.1685	likely_benign	0.1558	benign	-0.789	Destabilizing	0.007	N	0.223	neutral	None	None	None	None	N
G/P	0.9562	likely_pathogenic	0.9518	pathogenic	0.334	Stabilizing	0.722	D	0.689	prob.neutral	None	None	None	None	N
G/Q	0.1614	likely_benign	0.157	benign	-0.641	Destabilizing	0.39	N	0.693	prob.neutral	None	None	None	None	N
G/R	0.1732	likely_benign	0.1678	benign	-0.913	Destabilizing	0.491	N	0.687	prob.neutral	N	0.424151984	None	None	N
G/S	0.0739	likely_benign	0.0717	benign	-1.192	Destabilizing	0.047	N	0.225	neutral	None	None	None	None	N
G/T	0.0758	likely_benign	0.0721	benign	-0.926	Destabilizing	0.002	N	0.471	neutral	None	None	None	None	N
G/V	0.0982	likely_benign	0.0913	benign	0.334	Stabilizing	0.326	N	0.659	neutral	N	0.422074471	None	None	N
G/W	0.295	likely_benign	0.2793	benign	-1.252	Destabilizing	0.991	D	0.679	prob.neutral	None	None	None	None	N
G/Y	0.246	likely_benign	0.2339	benign	-0.604	Destabilizing	0.965	D	0.694	prob.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.