TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8404	25435;25436;25437	chr2:178717664;178717663;178717662	chr2:179582391;179582390;179582389
N2AB	8087	24484;24485;24486	chr2:178717664;178717663;178717662	chr2:179582391;179582390;179582389
N2A	7160	21703;21704;21705	chr2:178717664;178717663;178717662	chr2:179582391;179582390;179582389
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: A
• RefSeq wild type transcript codon: GCT
• RefSeq wild type template codon: CGA
• Domain: Ig-69
• Domain position: 45
• Structural Position: 102
• Q(SASA): 0.4189
• 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
A/S	rs1418140235	-0.152	None	N	0.119	0.077	0.0138822411134	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.92E-06	0
A/S	rs1418140235	-0.152	None	N	0.119	0.077	0.0138822411134	gnomAD-4.0.0	1.59222E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85977E-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	0.3002	likely_benign	0.2987	benign	-0.656	Destabilizing	0.673	D	0.305	neutral	None	None	None	None	N
A/D	0.1088	likely_benign	0.1157	benign	-0.657	Destabilizing	None	N	0.189	neutral	N	0.36163094	None	None	N
A/E	0.1237	likely_benign	0.1284	benign	-0.819	Destabilizing	0.001	N	0.193	neutral	None	None	None	None	N
A/F	0.1826	likely_benign	0.182	benign	-0.885	Destabilizing	0.502	D	0.439	neutral	None	None	None	None	N
A/G	0.0926	likely_benign	0.0947	benign	-0.152	Destabilizing	0.001	N	0.19	neutral	N	0.376080317	None	None	N
A/H	0.2134	likely_benign	0.2287	benign	-0.211	Destabilizing	0.502	D	0.389	neutral	None	None	None	None	N
A/I	0.1335	likely_benign	0.134	benign	-0.299	Destabilizing	0.126	N	0.346	neutral	None	None	None	None	N
A/K	0.1877	likely_benign	0.1947	benign	-0.546	Destabilizing	0.056	N	0.312	neutral	None	None	None	None	N
A/L	0.1103	likely_benign	0.1078	benign	-0.299	Destabilizing	0.001	N	0.19	neutral	None	None	None	None	N
A/M	0.1549	likely_benign	0.15	benign	-0.394	Destabilizing	0.502	D	0.327	neutral	None	None	None	None	N
A/N	0.1023	likely_benign	0.1111	benign	-0.162	Destabilizing	None	N	0.225	neutral	None	None	None	None	N
A/P	0.1023	likely_benign	0.1047	benign	-0.217	Destabilizing	None	N	0.145	neutral	N	0.353088814	None	None	N
A/Q	0.1651	likely_benign	0.1682	benign	-0.467	Destabilizing	0.223	N	0.409	neutral	None	None	None	None	N
A/R	0.1762	likely_benign	0.1885	benign	-0.067	Destabilizing	0.223	N	0.409	neutral	None	None	None	None	N
A/S	0.0688	likely_benign	0.0692	benign	-0.3	Destabilizing	None	N	0.119	neutral	N	0.360918864	None	None	N
A/T	0.069	likely_benign	0.0696	benign	-0.395	Destabilizing	0.008	N	0.217	neutral	N	0.428549365	None	None	N
A/V	0.0917	likely_benign	0.0923	benign	-0.217	Destabilizing	0.016	N	0.181	neutral	N	0.439382434	None	None	N
A/W	0.4094	ambiguous	0.4306	ambiguous	-1.014	Destabilizing	0.959	D	0.411	neutral	None	None	None	None	N
A/Y	0.2193	likely_benign	0.2352	benign	-0.67	Destabilizing	0.671	D	0.41	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.