TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30873	92842;92843;92844	chr2:178549009;178549008;178549007	chr2:179413736;179413735;179413734
N2AB	29232	87919;87920;87921	chr2:178549009;178549008;178549007	chr2:179413736;179413735;179413734
N2A	28305	85138;85139;85140	chr2:178549009;178549008;178549007	chr2:179413736;179413735;179413734
N2B	21808	65647;65648;65649	chr2:178549009;178549008;178549007	chr2:179413736;179413735;179413734
Novex-1	21933	66022;66023;66024	chr2:178549009;178549008;178549007	chr2:179413736;179413735;179413734
Novex-2	22000	66223;66224;66225	chr2:178549009;178549008;178549007	chr2:179413736;179413735;179413734
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: A
• RefSeq wild type transcript codon: GCA
• RefSeq wild type template codon: CGT
• Domain: Fn3-113
• Domain position: 53
• Structural Position: 70
• Q(SASA): 0.7046
• 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
A/T	None	None	None	N	0.063	0.043	0.0482279557977	gnomAD-4.0.0	1.59107E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85786E-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
A/C	0.3211	likely_benign	0.37	ambiguous	-0.782	Destabilizing	0.356	N	0.227	neutral	None	None	None	None	I
A/D	0.1637	likely_benign	0.1652	benign	-0.61	Destabilizing	0.038	N	0.259	neutral	None	None	None	None	I
A/E	0.1545	likely_benign	0.1582	benign	-0.767	Destabilizing	0.024	N	0.242	neutral	N	0.39459516	None	None	I
A/F	0.2306	likely_benign	0.2602	benign	-0.921	Destabilizing	0.214	N	0.305	neutral	None	None	None	None	I
A/G	0.1006	likely_benign	0.1049	benign	-0.207	Destabilizing	0.024	N	0.149	neutral	N	0.422936554	None	None	I
A/H	0.2668	likely_benign	0.294	benign	-0.221	Destabilizing	0.356	N	0.267	neutral	None	None	None	None	I
A/I	0.1219	likely_benign	0.1299	benign	-0.385	Destabilizing	0.013	N	0.285	neutral	None	None	None	None	I
A/K	0.2019	likely_benign	0.221	benign	-0.56	Destabilizing	0.072	N	0.241	neutral	None	None	None	None	I
A/L	0.0982	likely_benign	0.1049	benign	-0.385	Destabilizing	0.016	N	0.279	neutral	None	None	None	None	I
A/M	0.12	likely_benign	0.1319	benign	-0.501	Destabilizing	0.214	N	0.235	neutral	None	None	None	None	I
A/N	0.1281	likely_benign	0.1436	benign	-0.241	Destabilizing	None	N	0.109	neutral	None	None	None	None	I
A/P	0.1083	likely_benign	0.1069	benign	-0.298	Destabilizing	None	N	0.096	neutral	N	0.35334597	None	None	I
A/Q	0.1909	likely_benign	0.2061	benign	-0.526	Destabilizing	0.136	N	0.369	neutral	None	None	None	None	I
A/R	0.2015	likely_benign	0.2199	benign	-0.099	Destabilizing	0.072	N	0.343	neutral	None	None	None	None	I
A/S	0.0779	likely_benign	0.081	benign	-0.4	Destabilizing	0.001	N	0.087	neutral	N	0.403022642	None	None	I
A/T	0.0647	likely_benign	0.0677	benign	-0.488	Destabilizing	None	N	0.063	neutral	N	0.379607065	None	None	I
A/V	0.0795	likely_benign	0.0791	benign	-0.298	Destabilizing	None	N	0.102	neutral	N	0.416042293	None	None	I
A/W	0.4831	ambiguous	0.5293	ambiguous	-1.03	Destabilizing	0.864	D	0.291	neutral	None	None	None	None	I
A/Y	0.2923	likely_benign	0.3287	benign	-0.704	Destabilizing	0.356	N	0.301	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.