TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32926	99001;99002;99003	chr2:178539159;178539158;178539157	chr2:179403886;179403885;179403884
N2AB	31285	94078;94079;94080	chr2:178539159;178539158;178539157	chr2:179403886;179403885;179403884
N2A	30358	91297;91298;91299	chr2:178539159;178539158;178539157	chr2:179403886;179403885;179403884
N2B	23861	71806;71807;71808	chr2:178539159;178539158;178539157	chr2:179403886;179403885;179403884
Novex-1	23986	72181;72182;72183	chr2:178539159;178539158;178539157	chr2:179403886;179403885;179403884
Novex-2	24053	72382;72383;72384	chr2:178539159;178539158;178539157	chr2:179403886;179403885;179403884
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGT
• RefSeq wild type template codon: CCA
• Domain: Fn3-128
• Domain position: 31
• Structural Position: 32
• Q(SASA): 0.446
• 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
G/C	rs1693158118	None	1.0	D	0.791	0.489	0.776721894602	gnomAD-4.0.0	2.40064E-06	None	None	None	None	I	None	1.26695E-04	0	None	0	0	None	0	0	0	0	0
G/D	None	None	1.0	N	0.738	0.479	0.49179695788	gnomAD-4.0.0	1.59128E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	0	3.02425E-05

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
G/A	0.8786	likely_pathogenic	0.8805	pathogenic	-0.102	Destabilizing	1.0	D	0.629	neutral	N	0.490187964	None	None	I
G/C	0.9263	likely_pathogenic	0.9402	pathogenic	-0.768	Destabilizing	1.0	D	0.791	deleterious	D	0.530323721	None	None	I
G/D	0.9648	likely_pathogenic	0.9729	pathogenic	-0.431	Destabilizing	1.0	D	0.738	prob.delet.	N	0.502811717	None	None	I
G/E	0.9778	likely_pathogenic	0.9834	pathogenic	-0.592	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	I
G/F	0.9841	likely_pathogenic	0.9819	pathogenic	-0.948	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	I
G/H	0.9834	likely_pathogenic	0.986	pathogenic	-0.276	Destabilizing	1.0	D	0.789	deleterious	None	None	None	None	I
G/I	0.9808	likely_pathogenic	0.982	pathogenic	-0.381	Destabilizing	1.0	D	0.802	deleterious	None	None	None	None	I
G/K	0.9852	likely_pathogenic	0.989	pathogenic	-0.391	Destabilizing	1.0	D	0.805	deleterious	None	None	None	None	I
G/L	0.9762	likely_pathogenic	0.9769	pathogenic	-0.381	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	I
G/M	0.9871	likely_pathogenic	0.9879	pathogenic	-0.401	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	I
G/N	0.9478	likely_pathogenic	0.9495	pathogenic	-0.122	Destabilizing	1.0	D	0.719	prob.delet.	None	None	None	None	I
G/P	0.9975	likely_pathogenic	0.9978	pathogenic	-0.263	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	I
G/Q	0.9735	likely_pathogenic	0.9798	pathogenic	-0.395	Destabilizing	1.0	D	0.821	deleterious	None	None	None	None	I
G/R	0.9632	likely_pathogenic	0.9697	pathogenic	-0.028	Destabilizing	1.0	D	0.823	deleterious	N	0.501419365	None	None	I
G/S	0.7882	likely_pathogenic	0.7801	pathogenic	-0.246	Destabilizing	1.0	D	0.724	prob.delet.	N	0.490566357	None	None	I
G/T	0.9568	likely_pathogenic	0.9558	pathogenic	-0.345	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/V	0.9732	likely_pathogenic	0.9735	pathogenic	-0.263	Destabilizing	1.0	D	0.796	deleterious	D	0.540666068	None	None	I
G/W	0.9796	likely_pathogenic	0.978	pathogenic	-1.063	Destabilizing	1.0	D	0.795	deleterious	None	None	None	None	I
G/Y	0.9785	likely_pathogenic	0.9769	pathogenic	-0.72	Destabilizing	1.0	D	0.778	deleterious	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.