TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31113	93562;93563;93564	chr2:178548289;178548288;178548287	chr2:179413016;179413015;179413014
N2AB	29472	88639;88640;88641	chr2:178548289;178548288;178548287	chr2:179413016;179413015;179413014
N2A	28545	85858;85859;85860	chr2:178548289;178548288;178548287	chr2:179413016;179413015;179413014
N2B	22048	66367;66368;66369	chr2:178548289;178548288;178548287	chr2:179413016;179413015;179413014
Novex-1	22173	66742;66743;66744	chr2:178548289;178548288;178548287	chr2:179413016;179413015;179413014
Novex-2	22240	66943;66944;66945	chr2:178548289;178548288;178548287	chr2:179413016;179413015;179413014
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: Fn3-115
• Domain position: 1
• Structural Position: 1
• Q(SASA): 0.3027
• 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	None	None	0.412	N	0.306	0.039	0.132336055621	gnomAD-4.0.0	1.59111E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43271E-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	0.1442	likely_benign	0.1391	benign	-0.298	Destabilizing	0.026	N	0.361	neutral	None	None	None	None	N
Q/C	0.586	likely_pathogenic	0.6201	pathogenic	0.346	Stabilizing	0.914	D	0.412	neutral	None	None	None	None	N
Q/D	0.5294	ambiguous	0.5208	ambiguous	-0.236	Destabilizing	0.012	N	0.259	neutral	None	None	None	None	N
Q/E	0.082	likely_benign	0.0774	benign	-0.268	Destabilizing	None	N	0.044	neutral	N	0.372598161	None	None	N
Q/F	0.689	likely_pathogenic	0.686	pathogenic	-0.539	Destabilizing	0.739	D	0.517	neutral	None	None	None	None	N
Q/G	0.341	ambiguous	0.3254	benign	-0.493	Destabilizing	0.051	N	0.351	neutral	None	None	None	None	N
Q/H	0.3316	likely_benign	0.3273	benign	-0.581	Destabilizing	0.412	N	0.306	neutral	N	0.477880186	None	None	N
Q/I	0.261	likely_benign	0.2431	benign	0.134	Stabilizing	0.482	N	0.528	neutral	None	None	None	None	N
Q/K	0.0997	likely_benign	0.0854	benign	0.129	Stabilizing	0.009	N	0.279	neutral	N	0.393434793	None	None	N
Q/L	0.1256	likely_benign	0.1206	benign	0.134	Stabilizing	0.09	N	0.401	neutral	N	0.405382583	None	None	N
Q/M	0.2678	likely_benign	0.2622	benign	0.677	Stabilizing	0.739	D	0.343	neutral	None	None	None	None	N
Q/N	0.3722	ambiguous	0.3607	ambiguous	-0.138	Destabilizing	0.116	N	0.218	neutral	None	None	None	None	N
Q/P	0.0928	likely_benign	0.089	benign	0.018	Stabilizing	0.167	N	0.489	neutral	N	0.348835866	None	None	N
Q/R	0.1371	likely_benign	0.1254	benign	0.286	Stabilizing	0.039	N	0.307	neutral	N	0.4148875	None	None	N
Q/S	0.246	likely_benign	0.2365	benign	-0.165	Destabilizing	0.026	N	0.247	neutral	None	None	None	None	N
Q/T	0.1888	likely_benign	0.1751	benign	-0.043	Destabilizing	0.116	N	0.411	neutral	None	None	None	None	N
Q/V	0.1602	likely_benign	0.147	benign	0.018	Stabilizing	0.116	N	0.472	neutral	None	None	None	None	N
Q/W	0.7329	likely_pathogenic	0.7016	pathogenic	-0.481	Destabilizing	0.914	D	0.439	neutral	None	None	None	None	N
Q/Y	0.5408	ambiguous	0.5289	ambiguous	-0.219	Destabilizing	0.739	D	0.487	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.