TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4890	14893;14894;14895	chr2:178735778;178735777;178735776	chr2:179600505;179600504;179600503
N2AB	4573	13942;13943;13944	chr2:178735778;178735777;178735776	chr2:179600505;179600504;179600503
N2A	3646	11161;11162;11163	chr2:178735778;178735777;178735776	chr2:179600505;179600504;179600503
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: F
• RefSeq wild type transcript codon: TTC
• RefSeq wild type template codon: AAG
• Domain: Ig-32
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1615
• 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
F/L	None	None	0.76	D	0.643	0.539	0.423119698836	gnomAD-4.0.0	6.84262E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99475E-07	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
F/A	0.9597	likely_pathogenic	0.9444	pathogenic	-2.876	Highly Destabilizing	0.953	D	0.793	deleterious	None	None	None	None	N
F/C	0.8383	likely_pathogenic	0.7374	pathogenic	-1.553	Destabilizing	0.999	D	0.833	deleterious	D	0.791512631	None	None	N
F/D	0.9903	likely_pathogenic	0.9892	pathogenic	-2.665	Highly Destabilizing	0.998	D	0.875	deleterious	None	None	None	None	N
F/E	0.9923	likely_pathogenic	0.99	pathogenic	-2.579	Highly Destabilizing	0.998	D	0.877	deleterious	None	None	None	None	N
F/G	0.9808	likely_pathogenic	0.9738	pathogenic	-3.208	Highly Destabilizing	0.998	D	0.861	deleterious	None	None	None	None	N
F/H	0.9439	likely_pathogenic	0.9304	pathogenic	-1.49	Destabilizing	0.999	D	0.761	deleterious	None	None	None	None	N
F/I	0.4984	ambiguous	0.3841	ambiguous	-1.829	Destabilizing	0.1	N	0.475	neutral	D	0.569667167	None	None	N
F/K	0.9882	likely_pathogenic	0.9848	pathogenic	-1.507	Destabilizing	0.993	D	0.874	deleterious	None	None	None	None	N
F/L	0.9418	likely_pathogenic	0.9061	pathogenic	-1.829	Destabilizing	0.76	D	0.643	neutral	D	0.643652754	None	None	N
F/M	0.8478	likely_pathogenic	0.7858	pathogenic	-1.492	Destabilizing	0.986	D	0.723	prob.delet.	None	None	None	None	N
F/N	0.9678	likely_pathogenic	0.9625	pathogenic	-1.573	Destabilizing	0.998	D	0.875	deleterious	None	None	None	None	N
F/P	0.9904	likely_pathogenic	0.9877	pathogenic	-2.18	Highly Destabilizing	0.998	D	0.877	deleterious	None	None	None	None	N
F/Q	0.9853	likely_pathogenic	0.9802	pathogenic	-1.783	Destabilizing	0.999	D	0.872	deleterious	None	None	None	None	N
F/R	0.9702	likely_pathogenic	0.9611	pathogenic	-0.72	Destabilizing	0.998	D	0.881	deleterious	None	None	None	None	N
F/S	0.9504	likely_pathogenic	0.9305	pathogenic	-2.257	Highly Destabilizing	0.991	D	0.845	deleterious	D	0.791101806	None	None	N
F/T	0.9612	likely_pathogenic	0.9456	pathogenic	-2.082	Highly Destabilizing	0.986	D	0.835	deleterious	None	None	None	None	N
F/V	0.5982	likely_pathogenic	0.4732	ambiguous	-2.18	Highly Destabilizing	0.725	D	0.697	prob.neutral	D	0.634182678	None	None	N
F/W	0.8436	likely_pathogenic	0.7976	pathogenic	-0.739	Destabilizing	0.999	D	0.715	prob.delet.	None	None	None	None	N
F/Y	0.4967	ambiguous	0.4249	ambiguous	-1.019	Destabilizing	0.99	D	0.627	neutral	D	0.791165501	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.