TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7601	23026;23027;23028	chr2:178721862;178721861;178721860	chr2:179586589;179586588;179586587
N2AB	7284	22075;22076;22077	chr2:178721862;178721861;178721860	chr2:179586589;179586588;179586587
N2A	6357	19294;19295;19296	chr2:178721862;178721861;178721860	chr2:179586589;179586588;179586587
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-60
• Domain position: 87
• Structural Position: 173
• Q(SASA): 0.3671
• 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	0.619	N	0.566	0.362	0.434934176536	gnomAD-4.0.0	6.86339E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.01296E-07	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	0.1882	likely_benign	0.1758	benign	-0.885	Destabilizing	0.594	D	0.383	neutral	None	None	None	None	N
Q/C	0.6063	likely_pathogenic	0.596	pathogenic	-0.24	Destabilizing	0.989	D	0.545	neutral	None	None	None	None	N
Q/D	0.3114	likely_benign	0.2753	benign	-0.459	Destabilizing	0.001	N	0.141	neutral	None	None	None	None	N
Q/E	0.0844	likely_benign	0.0804	benign	-0.384	Destabilizing	None	N	0.124	neutral	N	0.479510274	None	None	N
Q/F	0.415	ambiguous	0.4084	ambiguous	-0.893	Destabilizing	0.933	D	0.569	neutral	None	None	None	None	N
Q/G	0.283	likely_benign	0.2785	benign	-1.177	Destabilizing	0.748	D	0.512	neutral	None	None	None	None	N
Q/H	0.1321	likely_benign	0.1269	benign	-1.104	Destabilizing	0.883	D	0.539	neutral	N	0.483516158	None	None	N
Q/I	0.2344	likely_benign	0.2215	benign	-0.156	Destabilizing	0.414	N	0.543	neutral	None	None	None	None	N
Q/K	0.0918	likely_benign	0.0938	benign	-0.129	Destabilizing	0.18	N	0.434	neutral	N	0.443090901	None	None	N
Q/L	0.0925	likely_benign	0.0913	benign	-0.156	Destabilizing	0.18	N	0.482	neutral	N	0.498522896	None	None	N
Q/M	0.27	likely_benign	0.2527	benign	0.407	Stabilizing	0.909	D	0.532	neutral	None	None	None	None	N
Q/N	0.2253	likely_benign	0.196	benign	-0.695	Destabilizing	0.515	D	0.428	neutral	None	None	None	None	N
Q/P	0.1438	likely_benign	0.1492	benign	-0.371	Destabilizing	0.619	D	0.566	neutral	N	0.483846359	None	None	N
Q/R	0.0926	likely_benign	0.0984	benign	-0.053	Destabilizing	0.411	N	0.423	neutral	N	0.454366687	None	None	N
Q/S	0.1947	likely_benign	0.1821	benign	-0.863	Destabilizing	0.594	D	0.427	neutral	None	None	None	None	N
Q/T	0.1517	likely_benign	0.1398	benign	-0.593	Destabilizing	0.054	N	0.463	neutral	None	None	None	None	N
Q/V	0.159	likely_benign	0.1495	benign	-0.371	Destabilizing	0.002	N	0.324	neutral	None	None	None	None	N
Q/W	0.3184	likely_benign	0.3397	benign	-0.699	Destabilizing	0.998	D	0.561	neutral	None	None	None	None	N
Q/Y	0.2651	likely_benign	0.2559	benign	-0.456	Destabilizing	0.977	D	0.581	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.