TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	25459	76600;76601;76602	chr2:178569757;178569756;178569755	chr2:179434484;179434483;179434482
N2AB	23818	71677;71678;71679	chr2:178569757;178569756;178569755	chr2:179434484;179434483;179434482
N2A	22891	68896;68897;68898	chr2:178569757;178569756;178569755	chr2:179434484;179434483;179434482
N2B	16394	49405;49406;49407	chr2:178569757;178569756;178569755	chr2:179434484;179434483;179434482
Novex-1	16519	49780;49781;49782	chr2:178569757;178569756;178569755	chr2:179434484;179434483;179434482
Novex-2	16586	49981;49982;49983	chr2:178569757;178569756;178569755	chr2:179434484;179434483;179434482
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Fn3-73
• Domain position: 55
• Structural Position: 72
• Q(SASA): 0.9759
• 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
T/I	None	None	0.983	N	0.557	0.229	0.355865052028	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
T/A	0.0606	likely_benign	0.061	benign	-0.42	Destabilizing	0.63	D	0.439	neutral	N	0.48373151	None	None	N
T/C	0.2849	likely_benign	0.3194	benign	-0.285	Destabilizing	0.999	D	0.541	neutral	None	None	None	None	N
T/D	0.2365	likely_benign	0.2359	benign	0.475	Stabilizing	0.975	D	0.495	neutral	None	None	None	None	N
T/E	0.1939	likely_benign	0.1888	benign	0.415	Stabilizing	0.975	D	0.502	neutral	None	None	None	None	N
T/F	0.1761	likely_benign	0.1909	benign	-0.846	Destabilizing	0.987	D	0.615	neutral	None	None	None	None	N
T/G	0.1419	likely_benign	0.1465	benign	-0.57	Destabilizing	0.845	D	0.486	neutral	None	None	None	None	N
T/H	0.185	likely_benign	0.1963	benign	-0.792	Destabilizing	0.999	D	0.59	neutral	None	None	None	None	N
T/I	0.1459	likely_benign	0.169	benign	-0.145	Destabilizing	0.983	D	0.557	neutral	N	0.506915014	None	None	N
T/K	0.1398	likely_benign	0.1322	benign	-0.255	Destabilizing	0.967	D	0.496	neutral	N	0.469229191	None	None	N
T/L	0.0837	likely_benign	0.0914	benign	-0.145	Destabilizing	0.916	D	0.517	neutral	None	None	None	None	N
T/M	0.0817	likely_benign	0.0856	benign	-0.033	Destabilizing	0.999	D	0.528	neutral	None	None	None	None	N
T/N	0.0942	likely_benign	0.1011	benign	-0.073	Destabilizing	0.975	D	0.468	neutral	None	None	None	None	N
T/P	0.1311	likely_benign	0.1401	benign	-0.207	Destabilizing	0.983	D	0.556	neutral	N	0.466697977	None	None	N
T/Q	0.1677	likely_benign	0.1699	benign	-0.264	Destabilizing	0.975	D	0.535	neutral	None	None	None	None	N
T/R	0.1227	likely_benign	0.121	benign	-0.012	Destabilizing	0.967	D	0.553	neutral	N	0.466822881	None	None	N
T/S	0.078	likely_benign	0.0805	benign	-0.357	Destabilizing	0.099	N	0.211	neutral	N	0.480808635	None	None	N
T/V	0.1066	likely_benign	0.1218	benign	-0.207	Destabilizing	0.916	D	0.461	neutral	None	None	None	None	N
T/W	0.459	ambiguous	0.4745	ambiguous	-0.827	Destabilizing	0.999	D	0.657	neutral	None	None	None	None	N
T/Y	0.2094	likely_benign	0.2315	benign	-0.544	Destabilizing	0.996	D	0.614	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.