TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6525	19798;19799;19800	chr2:178728251;178728250;178728249	chr2:179592978;179592977;179592976
N2AB	6208	18847;18848;18849	chr2:178728251;178728250;178728249	chr2:179592978;179592977;179592976
N2A	5281	16066;16067;16068	chr2:178728251;178728250;178728249	chr2:179592978;179592977;179592976
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: GCA
• RefSeq wild type template codon: CGT
• Domain: Ig-49
• Domain position: 45
• Structural Position: 111
• Q(SASA): 0.3816
• 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/T	rs1578118075	None	0.134	N	0.257	0.141	0.101711395817	gnomAD-4.0.0	1.59256E-06	None	None	None	None	N	None	0	0	None	0	2.7767E-05	None	0	0	0	0	0
A/V	None	None	0.061	N	0.168	0.183	0.218112801441	gnomAD-4.0.0	1.59254E-06	None	None	None	None	N	None	0	2.28896E-05	None	0	0	None	0	0	0	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	0.4839	ambiguous	0.5202	ambiguous	-0.84	Destabilizing	0.999	D	0.322	neutral	None	None	None	None	N
A/D	0.1262	likely_benign	0.1475	benign	-0.438	Destabilizing	0.046	N	0.267	neutral	None	None	None	None	N
A/E	0.1329	likely_benign	0.1442	benign	-0.581	Destabilizing	0.852	D	0.287	neutral	N	0.436523848	None	None	N
A/F	0.2925	likely_benign	0.3269	benign	-0.849	Destabilizing	0.991	D	0.396	neutral	None	None	None	None	N
A/G	0.1075	likely_benign	0.1158	benign	-0.27	Destabilizing	0.959	D	0.317	neutral	N	0.43448362	None	None	N
A/H	0.3361	likely_benign	0.3774	ambiguous	-0.221	Destabilizing	0.999	D	0.383	neutral	None	None	None	None	N
A/I	0.2077	likely_benign	0.2472	benign	-0.351	Destabilizing	0.884	D	0.309	neutral	None	None	None	None	N
A/K	0.2653	likely_benign	0.2851	benign	-0.582	Destabilizing	0.939	D	0.318	neutral	None	None	None	None	N
A/L	0.1425	likely_benign	0.1606	benign	-0.351	Destabilizing	0.759	D	0.317	neutral	None	None	None	None	N
A/M	0.2078	likely_benign	0.2374	benign	-0.534	Destabilizing	0.991	D	0.295	neutral	None	None	None	None	N
A/N	0.148	likely_benign	0.1667	benign	-0.31	Destabilizing	0.982	D	0.397	neutral	None	None	None	None	N
A/P	0.0973	likely_benign	0.1086	benign	-0.285	Destabilizing	0.996	D	0.309	neutral	N	0.412262909	None	None	N
A/Q	0.2171	likely_benign	0.2314	benign	-0.552	Destabilizing	0.991	D	0.318	neutral	None	None	None	None	N
A/R	0.2537	likely_benign	0.2588	benign	-0.142	Destabilizing	0.991	D	0.321	neutral	None	None	None	None	N
A/S	0.0733	likely_benign	0.0777	benign	-0.512	Destabilizing	0.852	D	0.375	neutral	N	0.442007026	None	None	N
A/T	0.0739	likely_benign	0.082	benign	-0.573	Destabilizing	0.134	N	0.257	neutral	N	0.442663173	None	None	N
A/V	0.1156	likely_benign	0.1298	benign	-0.285	Destabilizing	0.061	N	0.168	neutral	N	0.454540025	None	None	N
A/W	0.5815	likely_pathogenic	0.6047	pathogenic	-0.972	Destabilizing	0.999	D	0.504	neutral	None	None	None	None	N
A/Y	0.3702	ambiguous	0.4106	ambiguous	-0.644	Destabilizing	0.997	D	0.383	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.