TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7722	23389;23390;23391	chr2:178720598;178720597;178720596	chr2:179585325;179585324;179585323
N2AB	7405	22438;22439;22440	chr2:178720598;178720597;178720596	chr2:179585325;179585324;179585323
N2A	6478	19657;19658;19659	chr2:178720598;178720597;178720596	chr2:179585325;179585324;179585323
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: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-62
• Domain position: 21
• Structural Position: 31
• Q(SASA): 0.5502
• 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
Q/R	None	None	0.801	N	0.487	0.32	0.277730125212	gnomAD-4.0.0	1.59252E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86002E-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
Q/A	0.276	likely_benign	0.2713	benign	-0.411	Destabilizing	0.688	D	0.462	neutral	None	None	None	None	N
Q/C	0.6627	likely_pathogenic	0.6629	pathogenic	0.03	Stabilizing	0.998	D	0.607	neutral	None	None	None	None	N
Q/D	0.4252	ambiguous	0.4225	ambiguous	-1.124	Destabilizing	0.002	N	0.265	neutral	None	None	None	None	N
Q/E	0.0917	likely_benign	0.0896	benign	-1.044	Destabilizing	0.002	N	0.261	neutral	N	0.374519037	None	None	N
Q/F	0.6827	likely_pathogenic	0.6973	pathogenic	-0.314	Destabilizing	0.991	D	0.597	neutral	None	None	None	None	N
Q/G	0.3395	likely_benign	0.3456	ambiguous	-0.747	Destabilizing	0.817	D	0.538	neutral	None	None	None	None	N
Q/H	0.1796	likely_benign	0.174	benign	-0.886	Destabilizing	0.966	D	0.54	neutral	N	0.451270454	None	None	N
Q/I	0.4237	ambiguous	0.4231	ambiguous	0.433	Stabilizing	0.974	D	0.613	neutral	None	None	None	None	N
Q/K	0.0969	likely_benign	0.0961	benign	-0.312	Destabilizing	0.454	N	0.51	neutral	N	0.43805044	None	None	N
Q/L	0.1616	likely_benign	0.1589	benign	0.433	Stabilizing	0.801	D	0.551	neutral	N	0.463852962	None	None	N
Q/M	0.446	ambiguous	0.4505	ambiguous	0.965	Stabilizing	0.991	D	0.541	neutral	None	None	None	None	N
Q/N	0.2887	likely_benign	0.2919	benign	-0.876	Destabilizing	0.842	D	0.468	neutral	None	None	None	None	N
Q/P	0.333	likely_benign	0.2991	benign	0.184	Stabilizing	0.891	D	0.539	neutral	N	0.450558378	None	None	N
Q/R	0.1079	likely_benign	0.1067	benign	-0.273	Destabilizing	0.801	D	0.487	neutral	N	0.456060198	None	None	N
Q/S	0.2516	likely_benign	0.2665	benign	-0.87	Destabilizing	0.688	D	0.467	neutral	None	None	None	None	N
Q/T	0.2074	likely_benign	0.2103	benign	-0.61	Destabilizing	0.842	D	0.51	neutral	None	None	None	None	N
Q/V	0.2966	likely_benign	0.2907	benign	0.184	Stabilizing	0.915	D	0.569	neutral	None	None	None	None	N
Q/W	0.5492	ambiguous	0.5467	ambiguous	-0.289	Destabilizing	0.998	D	0.621	neutral	None	None	None	None	N
Q/Y	0.4632	ambiguous	0.4678	ambiguous	0.014	Stabilizing	0.991	D	0.594	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.