TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8754	26485;26486;26487	chr2:178714514;178714513;178714512	chr2:179579241;179579240;179579239
N2AB	8437	25534;25535;25536	chr2:178714514;178714513;178714512	chr2:179579241;179579240;179579239
N2A	7510	22753;22754;22755	chr2:178714514;178714513;178714512	chr2:179579241;179579240;179579239
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: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-73
• Domain position: 19
• Structural Position: 29
• Q(SASA): 0.6505
• 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/H	rs764746720	-0.231	0.239	N	0.401	0.122	0.0551355673512	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	3.28E-05	None	0	0	0
Q/H	rs764746720	-0.231	0.239	N	0.401	0.122	0.0551355673512	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	0	0	0	0	0	None	0	0	0	2.07297E-04	0
Q/H	rs764746720	-0.231	0.239	N	0.401	0.122	0.0551355673512	gnomAD-4.0.0	5.57899E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	9.88859E-05	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	0.1593	likely_benign	0.1711	benign	-0.511	Destabilizing	0.006	N	0.342	neutral	None	None	None	None	N
Q/C	0.4104	ambiguous	0.4977	ambiguous	-0.029	Destabilizing	0.488	N	0.465	neutral	None	None	None	None	N
Q/D	0.2809	likely_benign	0.3211	benign	-0.346	Destabilizing	0.004	N	0.351	neutral	None	None	None	None	N
Q/E	0.071	likely_benign	0.0703	benign	-0.269	Destabilizing	None	N	0.226	neutral	N	0.393330431	None	None	N
Q/F	0.4255	ambiguous	0.455	ambiguous	-0.205	Destabilizing	0.142	N	0.536	neutral	None	None	None	None	N
Q/G	0.2084	likely_benign	0.2485	benign	-0.848	Destabilizing	0.026	N	0.394	neutral	None	None	None	None	N
Q/H	0.1363	likely_benign	0.1517	benign	-0.632	Destabilizing	0.239	N	0.401	neutral	N	0.455245682	None	None	N
Q/I	0.2178	likely_benign	0.2197	benign	0.335	Stabilizing	0.012	N	0.48	neutral	None	None	None	None	N
Q/K	0.0836	likely_benign	0.0859	benign	-0.335	Destabilizing	None	N	0.229	neutral	N	0.405990297	None	None	N
Q/L	0.0901	likely_benign	0.0958	benign	0.335	Stabilizing	0.004	N	0.389	neutral	N	0.473060651	None	None	N
Q/M	0.2573	likely_benign	0.2562	benign	0.586	Stabilizing	0.293	N	0.402	neutral	None	None	None	None	N
Q/N	0.2261	likely_benign	0.2365	benign	-0.811	Destabilizing	0.018	N	0.413	neutral	None	None	None	None	N
Q/P	0.2146	likely_benign	0.2887	benign	0.085	Stabilizing	0.027	N	0.498	neutral	N	0.454184404	None	None	N
Q/R	0.0843	likely_benign	0.0927	benign	-0.24	Destabilizing	None	N	0.261	neutral	N	0.446932843	None	None	N
Q/S	0.1756	likely_benign	0.176	benign	-0.877	Destabilizing	0.002	N	0.222	neutral	None	None	None	None	N
Q/T	0.1314	likely_benign	0.129	benign	-0.61	Destabilizing	None	N	0.27	neutral	None	None	None	None	N
Q/V	0.1544	likely_benign	0.1542	benign	0.085	Stabilizing	None	N	0.351	neutral	None	None	None	None	N
Q/W	0.3112	likely_benign	0.3943	ambiguous	-0.096	Destabilizing	0.947	D	0.469	neutral	None	None	None	None	N
Q/Y	0.2671	likely_benign	0.2991	benign	0.109	Stabilizing	0.335	N	0.492	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.