TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7971	24136;24137;24138	chr2:178719581;178719580;178719579	chr2:179584308;179584307;179584306
N2AB	7654	23185;23186;23187	chr2:178719581;178719580;178719579	chr2:179584308;179584307;179584306
N2A	6727	20404;20405;20406	chr2:178719581;178719580;178719579	chr2:179584308;179584307;179584306
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: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-64
• Domain position: 83
• Structural Position: 168
• Q(SASA): 0.4946
• 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
N/K	None	None	0.012	N	0.305	0.215	0.15556083564	gnomAD-4.0.0	1.3709E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.80219E-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
N/A	0.1231	likely_benign	0.1385	benign	-0.588	Destabilizing	0.007	N	0.367	neutral	None	None	None	None	N
N/C	0.1775	likely_benign	0.2062	benign	0.221	Stabilizing	0.356	N	0.446	neutral	None	None	None	None	N
N/D	0.0902	likely_benign	0.0877	benign	-0.057	Destabilizing	0.012	N	0.339	neutral	N	0.459137789	None	None	N
N/E	0.2402	likely_benign	0.2398	benign	-0.042	Destabilizing	None	N	0.17	neutral	None	None	None	None	N
N/F	0.2878	likely_benign	0.327	benign	-0.669	Destabilizing	0.072	N	0.541	neutral	None	None	None	None	N
N/G	0.1932	likely_benign	0.2022	benign	-0.84	Destabilizing	0.016	N	0.277	neutral	None	None	None	None	N
N/H	0.0789	likely_benign	0.0791	benign	-0.761	Destabilizing	0.295	N	0.386	neutral	N	0.475992753	None	None	N
N/I	0.1326	likely_benign	0.1528	benign	0.01	Stabilizing	None	N	0.418	neutral	N	0.468450705	None	None	N
N/K	0.1867	likely_benign	0.1903	benign	-0.089	Destabilizing	0.012	N	0.305	neutral	N	0.437818367	None	None	N
N/L	0.141	likely_benign	0.1675	benign	0.01	Stabilizing	None	N	0.459	neutral	None	None	None	None	N
N/M	0.231	likely_benign	0.2673	benign	0.4	Stabilizing	0.214	N	0.493	neutral	None	None	None	None	N
N/P	0.6954	likely_pathogenic	0.696	pathogenic	-0.161	Destabilizing	0.072	N	0.503	neutral	None	None	None	None	N
N/Q	0.2057	likely_benign	0.2121	benign	-0.573	Destabilizing	0.072	N	0.371	neutral	None	None	None	None	N
N/R	0.182	likely_benign	0.1769	benign	-0.064	Destabilizing	0.072	N	0.378	neutral	None	None	None	None	N
N/S	0.0538	likely_benign	0.0576	benign	-0.438	Destabilizing	None	N	0.125	neutral	N	0.302253507	None	None	N
N/T	0.077	likely_benign	0.0904	benign	-0.254	Destabilizing	None	N	0.133	neutral	N	0.370726583	None	None	N
N/V	0.1385	likely_benign	0.1558	benign	-0.161	Destabilizing	0.007	N	0.366	neutral	None	None	None	None	N
N/W	0.5719	likely_pathogenic	0.5982	pathogenic	-0.526	Destabilizing	0.864	D	0.468	neutral	None	None	None	None	N
N/Y	0.1052	likely_benign	0.1199	benign	-0.312	Destabilizing	0.295	N	0.565	neutral	N	0.472125729	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.