TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26643	80152;80153;80154	chr2:178566205;178566204;178566203	chr2:179430932;179430931;179430930
N2AB	25002	75229;75230;75231	chr2:178566205;178566204;178566203	chr2:179430932;179430931;179430930
N2A	24075	72448;72449;72450	chr2:178566205;178566204;178566203	chr2:179430932;179430931;179430930
N2B	17578	52957;52958;52959	chr2:178566205;178566204;178566203	chr2:179430932;179430931;179430930
Novex-1	17703	53332;53333;53334	chr2:178566205;178566204;178566203	chr2:179430932;179430931;179430930
Novex-2	17770	53533;53534;53535	chr2:178566205;178566204;178566203	chr2:179430932;179430931;179430930
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: V
• RefSeq wild type transcript codon: GTA
• RefSeq wild type template codon: CAT
• Domain: Ig-138
• Domain position: 50
• Structural Position: 131
• Q(SASA): 0.3859
• 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
V/I	rs770413213	-0.12	None	N	0.156	0.045	0.101711395817	gnomAD-4.0.0	1.59148E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85879E-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
V/A	0.1035	likely_benign	0.0773	benign	-0.554	Destabilizing	None	N	0.157	neutral	N	0.41245491	None	None	N
V/C	0.4125	ambiguous	0.3665	ambiguous	-0.81	Destabilizing	0.356	N	0.319	neutral	None	None	None	None	N
V/D	0.1911	likely_benign	0.1417	benign	-0.178	Destabilizing	0.038	N	0.389	neutral	None	None	None	None	N
V/E	0.1853	likely_benign	0.1343	benign	-0.234	Destabilizing	None	N	0.151	neutral	N	0.331953899	None	None	N
V/F	0.0971	likely_benign	0.0884	benign	-0.543	Destabilizing	0.038	N	0.394	neutral	None	None	None	None	N
V/G	0.1231	likely_benign	0.0944	benign	-0.715	Destabilizing	0.029	N	0.355	neutral	N	0.353902465	None	None	N
V/H	0.3218	likely_benign	0.2448	benign	-0.015	Destabilizing	0.628	D	0.403	neutral	None	None	None	None	N
V/I	0.0562	likely_benign	0.058	benign	-0.252	Destabilizing	None	N	0.156	neutral	N	0.438276074	None	None	N
V/K	0.2298	likely_benign	0.1565	benign	-0.465	Destabilizing	0.072	N	0.317	neutral	None	None	None	None	N
V/L	0.0834	likely_benign	0.0687	benign	-0.252	Destabilizing	None	N	0.108	neutral	N	0.38557774	None	None	N
V/M	0.0814	likely_benign	0.069	benign	-0.586	Destabilizing	0.002	N	0.187	neutral	None	None	None	None	N
V/N	0.1161	likely_benign	0.0885	benign	-0.429	Destabilizing	0.136	N	0.504	neutral	None	None	None	None	N
V/P	0.1691	likely_benign	0.1259	benign	-0.321	Destabilizing	None	N	0.219	neutral	None	None	None	None	N
V/Q	0.1876	likely_benign	0.1362	benign	-0.557	Destabilizing	0.072	N	0.423	neutral	None	None	None	None	N
V/R	0.218	likely_benign	0.1614	benign	-0.012	Destabilizing	0.072	N	0.449	neutral	None	None	None	None	N
V/S	0.1082	likely_benign	0.0807	benign	-0.833	Destabilizing	0.016	N	0.262	neutral	None	None	None	None	N
V/T	0.1114	likely_benign	0.0862	benign	-0.778	Destabilizing	0.016	N	0.184	neutral	None	None	None	None	N
V/W	0.4854	ambiguous	0.3818	ambiguous	-0.634	Destabilizing	0.864	D	0.406	neutral	None	None	None	None	N
V/Y	0.2811	likely_benign	0.2419	benign	-0.351	Destabilizing	0.356	N	0.416	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.