TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3700	11323;11324;11325	chr2:178756378;178756377;178756376	chr2:179621105;179621104;179621103
N2AB	None	None	chr2:None	chr2:None
N2A	None	None	chr2:None	chr2:None
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	3529	10810;10811;10812	chr2:178756378;178756377;178756376	chr2:179621105;179621104;179621103
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: I
• RefSeq wild type transcript codon: ATA
• RefSeq wild type template codon: TAT
• Domain: Ig-26
• Domain position: 41
• Structural Position: 58
• Q(SASA): 0.1611
• 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
I/M	None	None	None	None	None	0.088	None	gnomAD-4.0.0	1.59117E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85796E-06	0	0
I/T	rs931429979	-2.222	None	None	None	0.178	None	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	5.58E-05	None	0	None	0	0	0
I/T	rs931429979	-2.222	None	None	None	0.178	None	gnomAD-4.0.0	2.0526E-06	None	None	None	None	N	None	0	0	None	0	2.5208E-05	None	0	0	1.79889E-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
I/A	0.3933	ambiguous	None	None	-2.196	Highly Destabilizing	None	None	None	None	None	None	None	None	N
I/C	0.8677	likely_pathogenic	None	None	-1.366	Destabilizing	None	None	None	None	None	None	None	None	N
I/D	0.9024	likely_pathogenic	None	None	-2.019	Highly Destabilizing	None	None	None	None	None	None	None	None	N
I/E	0.7685	likely_pathogenic	None	None	-1.884	Destabilizing	None	None	None	None	None	None	None	None	N
I/F	0.2352	likely_benign	None	None	-1.358	Destabilizing	None	None	None	None	None	None	None	None	N
I/G	0.7959	likely_pathogenic	None	None	-2.661	Highly Destabilizing	None	None	None	None	None	None	None	None	N
I/H	0.8105	likely_pathogenic	None	None	-1.923	Destabilizing	None	None	None	None	None	None	None	None	N
I/K	0.6623	likely_pathogenic	None	None	-1.652	Destabilizing	None	None	None	None	None	None	None	None	N
I/L	0.1388	likely_benign	None	None	-0.907	Destabilizing	None	None	None	None	None	None	None	None	N
I/M	0.0995	likely_benign	None	None	-0.707	Destabilizing	None	None	None	None	None	None	None	None	N
I/N	0.5745	likely_pathogenic	None	None	-1.713	Destabilizing	None	None	None	None	None	None	None	None	N
I/P	0.8436	likely_pathogenic	None	None	-1.311	Destabilizing	None	None	None	None	None	None	None	None	N
I/Q	0.7114	likely_pathogenic	None	None	-1.719	Destabilizing	None	None	None	None	None	None	None	None	N
I/R	0.5321	ambiguous	None	None	-1.191	Destabilizing	None	None	None	None	None	None	None	None	N
I/S	0.5149	ambiguous	None	None	-2.396	Highly Destabilizing	None	None	None	None	None	None	None	None	N
I/T	0.2365	likely_benign	None	None	-2.122	Highly Destabilizing	None	None	None	None	None	None	None	None	N
I/V	0.1117	likely_benign	None	None	-1.311	Destabilizing	None	None	None	None	None	None	None	None	N
I/W	0.8234	likely_pathogenic	None	None	-1.603	Destabilizing	None	None	None	None	None	None	None	None	N
I/Y	0.6848	likely_pathogenic	None	None	-1.339	Destabilizing	None	None	None	None	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.