TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32313	97162;97163;97164	chr2:178542917;178542916;178542915	chr2:179407644;179407643;179407642
N2AB	30672	92239;92240;92241	chr2:178542917;178542916;178542915	chr2:179407644;179407643;179407642
N2A	29745	89458;89459;89460	chr2:178542917;178542916;178542915	chr2:179407644;179407643;179407642
N2B	23248	69967;69968;69969	chr2:178542917;178542916;178542915	chr2:179407644;179407643;179407642
Novex-1	23373	70342;70343;70344	chr2:178542917;178542916;178542915	chr2:179407644;179407643;179407642
Novex-2	23440	70543;70544;70545	chr2:178542917;178542916;178542915	chr2:179407644;179407643;179407642
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-154
• Domain position: 7
• Structural Position: 8
• Q(SASA): 0.6854
• 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
Q/L	None	None	0.684	N	0.427	0.191	0.340992353424	gnomAD-4.0.0	6.85262E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	0	1.65887E-05
Q/R	None	None	0.684	N	0.455	0.114	0.101711395817	gnomAD-4.0.0	6.85262E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	9.00961E-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
Q/A	0.2437	likely_benign	0.2476	benign	-0.057	Destabilizing	0.742	D	0.383	neutral	None	None	None	None	I
Q/C	0.8431	likely_pathogenic	0.7883	pathogenic	-0.092	Destabilizing	0.996	D	0.471	neutral	None	None	None	None	I
Q/D	0.5135	ambiguous	0.4047	ambiguous	-0.119	Destabilizing	0.742	D	0.371	neutral	None	None	None	None	I
Q/E	0.1446	likely_benign	0.1097	benign	-0.171	Destabilizing	0.472	N	0.371	neutral	N	0.481104131	None	None	I
Q/F	0.7999	likely_pathogenic	0.7535	pathogenic	-0.458	Destabilizing	0.953	D	0.44	neutral	None	None	None	None	I
Q/G	0.2134	likely_benign	0.2001	benign	-0.167	Destabilizing	0.742	D	0.413	neutral	None	None	None	None	I
Q/H	0.4103	ambiguous	0.3021	benign	0.026	Stabilizing	0.015	N	0.261	neutral	N	0.492225202	None	None	I
Q/I	0.6126	likely_pathogenic	0.5652	pathogenic	0.135	Stabilizing	0.953	D	0.441	neutral	None	None	None	None	I
Q/K	0.2177	likely_benign	0.1483	benign	-0.005	Destabilizing	0.684	D	0.422	neutral	N	0.436121203	None	None	I
Q/L	0.1921	likely_benign	0.1668	benign	0.135	Stabilizing	0.684	D	0.427	neutral	N	0.457490979	None	None	I
Q/M	0.43	ambiguous	0.4188	ambiguous	0.093	Stabilizing	0.984	D	0.351	neutral	None	None	None	None	I
Q/N	0.3126	likely_benign	0.2877	benign	-0.282	Destabilizing	0.742	D	0.398	neutral	None	None	None	None	I
Q/P	0.2383	likely_benign	0.194	benign	0.095	Stabilizing	0.007	N	0.218	neutral	N	0.457837696	None	None	I
Q/R	0.2265	likely_benign	0.1474	benign	0.183	Stabilizing	0.684	D	0.455	neutral	N	0.439622868	None	None	I
Q/S	0.2441	likely_benign	0.2525	benign	-0.245	Destabilizing	0.742	D	0.388	neutral	None	None	None	None	I
Q/T	0.3077	likely_benign	0.283	benign	-0.173	Destabilizing	0.854	D	0.419	neutral	None	None	None	None	I
Q/V	0.377	ambiguous	0.3499	ambiguous	0.095	Stabilizing	0.953	D	0.415	neutral	None	None	None	None	I
Q/W	0.7764	likely_pathogenic	0.6413	pathogenic	-0.542	Destabilizing	0.996	D	0.476	neutral	None	None	None	None	I
Q/Y	0.6453	likely_pathogenic	0.5412	ambiguous	-0.244	Destabilizing	0.835	D	0.417	neutral	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.