TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7480	22663;22664;22665	chr2:178722349;178722348;178722347	chr2:179587076;179587075;179587074
N2AB	7163	21712;21713;21714	chr2:178722349;178722348;178722347	chr2:179587076;179587075;179587074
N2A	6236	18931;18932;18933	chr2:178722349;178722348;178722347	chr2:179587076;179587075;179587074
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: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-59
• Domain position: 62
• Structural Position: 143
• Q(SASA): 0.7347
• 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	rs201065037	0.127	0.73	N	0.367	0.394	None	gnomAD-2.1.1	1.47131E-04	None	None	None	None	N	None	8.29E-05	0	None	9.7E-05	0	None	0	None	0	2.99288E-04	0
Q/P	rs201065037	0.127	0.73	N	0.367	0.394	None	gnomAD-3.1.2	1.7092E-04	None	None	None	None	N	None	1.20662E-04	0	0	0	0	None	0	0	3.08814E-04	0	0
Q/P	rs201065037	0.127	0.73	N	0.367	0.394	None	gnomAD-4.0.0	2.34935E-04	None	None	None	None	N	None	6.67682E-05	1.6685E-05	None	3.37975E-05	0	None	0	0	3.069E-04	0	1.60215E-04

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	0.2686	likely_benign	0.2396	benign	-0.431	Destabilizing	0.032	N	0.11	neutral	None	None	None	None	N
Q/C	0.6956	likely_pathogenic	0.6277	pathogenic	0.315	Stabilizing	0.993	D	0.317	neutral	None	None	None	None	N
Q/D	0.3509	ambiguous	0.3103	benign	-0.416	Destabilizing	0.268	N	0.21	neutral	None	None	None	None	N
Q/E	0.0887	likely_benign	0.0803	benign	-0.388	Destabilizing	0.002	N	0.125	neutral	N	0.456220488	None	None	N
Q/F	0.6899	likely_pathogenic	0.6428	pathogenic	-0.338	Destabilizing	0.986	D	0.354	neutral	None	None	None	None	N
Q/G	0.2822	likely_benign	0.2478	benign	-0.724	Destabilizing	0.008	N	0.118	neutral	None	None	None	None	N
Q/H	0.175	likely_benign	0.1665	benign	-0.715	Destabilizing	0.926	D	0.211	neutral	N	0.515711508	None	None	N
Q/I	0.5188	ambiguous	0.4559	ambiguous	0.289	Stabilizing	0.701	D	0.409	neutral	None	None	None	None	N
Q/K	0.0809	likely_benign	0.0758	benign	-0.256	Destabilizing	0.01	N	0.109	neutral	N	0.452641465	None	None	N
Q/L	0.1744	likely_benign	0.1617	benign	0.289	Stabilizing	0.422	N	0.333	neutral	D	0.530776961	None	None	N
Q/M	0.4379	ambiguous	0.405	ambiguous	0.811	Stabilizing	0.981	D	0.231	neutral	None	None	None	None	N
Q/N	0.2853	likely_benign	0.2453	benign	-0.556	Destabilizing	0.023	N	0.111	neutral	None	None	None	None	N
Q/P	0.4233	ambiguous	0.3752	ambiguous	0.08	Stabilizing	0.73	D	0.367	neutral	N	0.502627568	None	None	N
Q/R	0.0849	likely_benign	0.0832	benign	-0.122	Destabilizing	0.002	N	0.093	neutral	N	0.460703587	None	None	N
Q/S	0.2847	likely_benign	0.2518	benign	-0.594	Destabilizing	0.347	N	0.185	neutral	None	None	None	None	N
Q/T	0.2476	likely_benign	0.2105	benign	-0.397	Destabilizing	0.001	N	0.133	neutral	None	None	None	None	N
Q/V	0.3501	ambiguous	0.3101	benign	0.08	Stabilizing	0.225	N	0.352	neutral	None	None	None	None	N
Q/W	0.4963	ambiguous	0.4406	ambiguous	-0.28	Destabilizing	0.999	D	0.32	neutral	None	None	None	None	N
Q/Y	0.4326	ambiguous	0.3819	ambiguous	-0.067	Destabilizing	0.986	D	0.329	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.