TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30296	91111;91112;91113	chr2:178552014;178552013;178552012	chr2:179416741;179416740;179416739
N2AB	28655	86188;86189;86190	chr2:178552014;178552013;178552012	chr2:179416741;179416740;179416739
N2A	27728	83407;83408;83409	chr2:178552014;178552013;178552012	chr2:179416741;179416740;179416739
N2B	21231	63916;63917;63918	chr2:178552014;178552013;178552012	chr2:179416741;179416740;179416739
Novex-1	21356	64291;64292;64293	chr2:178552014;178552013;178552012	chr2:179416741;179416740;179416739
Novex-2	21423	64492;64493;64494	chr2:178552014;178552013;178552012	chr2:179416741;179416740;179416739
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: Fn3-108
• Domain position: 73
• Structural Position: 105
• Q(SASA): 0.1944
• 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/P	None	None	0.999	D	0.568	0.455	0.582387198248	gnomAD-4.0.0	1.59307E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86221E-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	0.4235	ambiguous	0.4166	ambiguous	-1.348	Destabilizing	0.964	D	0.542	neutral	None	None	None	None	N
Q/C	0.7103	likely_pathogenic	0.7175	pathogenic	-0.507	Destabilizing	1.0	D	0.773	deleterious	None	None	None	None	N
Q/D	0.882	likely_pathogenic	0.8631	pathogenic	-1.74	Destabilizing	0.993	D	0.504	neutral	None	None	None	None	N
Q/E	0.1298	likely_benign	0.1127	benign	-1.414	Destabilizing	0.977	D	0.559	neutral	N	0.50118112	None	None	N
Q/F	0.8478	likely_pathogenic	0.8464	pathogenic	-0.766	Destabilizing	0.999	D	0.775	deleterious	None	None	None	None	N
Q/G	0.6956	likely_pathogenic	0.6668	pathogenic	-1.811	Destabilizing	0.993	D	0.573	neutral	None	None	None	None	N
Q/H	0.5102	ambiguous	0.4969	ambiguous	-1.045	Destabilizing	0.999	D	0.584	neutral	N	0.483814727	None	None	N
Q/I	0.3677	ambiguous	0.3986	ambiguous	-0.057	Destabilizing	0.996	D	0.743	deleterious	None	None	None	None	N
Q/K	0.3616	ambiguous	0.3548	ambiguous	-0.127	Destabilizing	0.99	D	0.58	neutral	N	0.488465326	None	None	N
Q/L	0.2223	likely_benign	0.2401	benign	-0.057	Destabilizing	0.98	D	0.558	neutral	N	0.468508402	None	None	N
Q/M	0.378	ambiguous	0.3979	ambiguous	0.085	Stabilizing	0.999	D	0.581	neutral	None	None	None	None	N
Q/N	0.6711	likely_pathogenic	0.6659	pathogenic	-1.058	Destabilizing	0.993	D	0.52	neutral	None	None	None	None	N
Q/P	0.9751	likely_pathogenic	0.9743	pathogenic	-0.464	Destabilizing	0.999	D	0.568	neutral	D	0.526708734	None	None	N
Q/R	0.3361	likely_benign	0.3327	benign	-0.304	Destabilizing	0.99	D	0.544	neutral	N	0.516825363	None	None	N
Q/S	0.4514	ambiguous	0.4369	ambiguous	-1.435	Destabilizing	0.971	D	0.552	neutral	None	None	None	None	N
Q/T	0.3059	likely_benign	0.3287	benign	-0.904	Destabilizing	0.469	N	0.383	neutral	None	None	None	None	N
Q/V	0.2729	likely_benign	0.301	benign	-0.464	Destabilizing	0.985	D	0.582	neutral	None	None	None	None	N
Q/W	0.8965	likely_pathogenic	0.8911	pathogenic	-0.656	Destabilizing	1.0	D	0.738	prob.delet.	None	None	None	None	N
Q/Y	0.7213	likely_pathogenic	0.7143	pathogenic	-0.301	Destabilizing	0.999	D	0.649	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.