TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32051	96376;96377;96378	chr2:178543993;178543992;178543991	chr2:179408720;179408719;179408718
N2AB	30410	91453;91454;91455	chr2:178543993;178543992;178543991	chr2:179408720;179408719;179408718
N2A	29483	88672;88673;88674	chr2:178543993;178543992;178543991	chr2:179408720;179408719;179408718
N2B	22986	69181;69182;69183	chr2:178543993;178543992;178543991	chr2:179408720;179408719;179408718
Novex-1	23111	69556;69557;69558	chr2:178543993;178543992;178543991	chr2:179408720;179408719;179408718
Novex-2	23178	69757;69758;69759	chr2:178543993;178543992;178543991	chr2:179408720;179408719;179408718
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-153
• Domain position: 35
• Structural Position: 51
• Q(SASA): 0.7917
• 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	rs767383259	0.483	0.012	N	0.225	0.122	0.148003135375	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.87E-06	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	0.0914	likely_benign	0.0907	benign	-0.089	Destabilizing	0.007	N	0.259	neutral	None	None	None	None	N
Q/C	0.4416	ambiguous	0.4381	ambiguous	-0.23	Destabilizing	0.864	D	0.359	neutral	None	None	None	None	N
Q/D	0.1546	likely_benign	0.1454	benign	-0.253	Destabilizing	0.016	N	0.19	neutral	None	None	None	None	N
Q/E	0.0633	likely_benign	0.0595	benign	-0.314	Destabilizing	None	N	0.153	neutral	N	0.343056327	None	None	N
Q/F	0.5259	ambiguous	0.5049	ambiguous	-0.536	Destabilizing	0.628	D	0.405	neutral	None	None	None	None	N
Q/G	0.1455	likely_benign	0.1312	benign	-0.17	Destabilizing	0.031	N	0.324	neutral	None	None	None	None	N
Q/H	0.1269	likely_benign	0.1282	benign	0.058	Stabilizing	0.295	N	0.235	neutral	N	0.474178159	None	None	N
Q/I	0.2474	likely_benign	0.2373	benign	0.026	Stabilizing	0.072	N	0.489	neutral	None	None	None	None	N
Q/K	0.0598	likely_benign	0.0564	benign	-0.089	Destabilizing	None	N	0.117	neutral	N	0.409742678	None	None	N
Q/L	0.1037	likely_benign	0.1019	benign	0.026	Stabilizing	0.024	N	0.325	neutral	N	0.423442694	None	None	N
Q/M	0.218	likely_benign	0.2118	benign	-0.039	Destabilizing	0.628	D	0.239	neutral	None	None	None	None	N
Q/N	0.1275	likely_benign	0.1245	benign	-0.33	Destabilizing	0.031	N	0.219	neutral	None	None	None	None	N
Q/P	0.0535	likely_benign	0.0562	benign	0.01	Stabilizing	None	N	0.157	neutral	N	0.390079482	None	None	N
Q/R	0.0899	likely_benign	0.0832	benign	0.128	Stabilizing	0.012	N	0.225	neutral	N	0.436659921	None	None	N
Q/S	0.1036	likely_benign	0.1036	benign	-0.308	Destabilizing	0.007	N	0.191	neutral	None	None	None	None	N
Q/T	0.0951	likely_benign	0.098	benign	-0.259	Destabilizing	None	N	0.144	neutral	None	None	None	None	N
Q/V	0.1475	likely_benign	0.1404	benign	0.01	Stabilizing	0.031	N	0.331	neutral	None	None	None	None	N
Q/W	0.4678	ambiguous	0.4267	ambiguous	-0.628	Destabilizing	0.864	D	0.361	neutral	None	None	None	None	N
Q/Y	0.3284	likely_benign	0.3073	benign	-0.333	Destabilizing	0.356	N	0.355	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.