TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18136	54631;54632;54633	chr2:178604281;178604280;178604279	chr2:179469008;179469007;179469006
N2AB	16495	49708;49709;49710	chr2:178604281;178604280;178604279	chr2:179469008;179469007;179469006
N2A	15568	46927;46928;46929	chr2:178604281;178604280;178604279	chr2:179469008;179469007;179469006
N2B	9071	27436;27437;27438	chr2:178604281;178604280;178604279	chr2:179469008;179469007;179469006
Novex-1	9196	27811;27812;27813	chr2:178604281;178604280;178604279	chr2:179469008;179469007;179469006
Novex-2	9263	28012;28013;28014	chr2:178604281;178604280;178604279	chr2:179469008;179469007;179469006
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: Fn3-19
• Domain position: 72
• Structural Position: 103
• Q(SASA): 0.3944
• 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	0.927	N	0.423	0.074	0.154104182512	gnomAD-4.0.0	7.32324E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	1.78336E-05

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	0.1613	likely_benign	0.1891	benign	-0.825	Destabilizing	0.176	N	0.256	neutral	None	None	None	None	N
Q/C	0.4748	ambiguous	0.495	ambiguous	-0.16	Destabilizing	0.995	D	0.502	neutral	None	None	None	None	N
Q/D	0.3452	ambiguous	0.4248	ambiguous	-0.563	Destabilizing	0.329	N	0.247	neutral	None	None	None	None	N
Q/E	0.0772	likely_benign	0.0865	benign	-0.443	Destabilizing	0.001	N	0.086	neutral	N	0.371427512	None	None	N
Q/F	0.5034	ambiguous	0.5534	ambiguous	-0.464	Destabilizing	0.981	D	0.515	neutral	None	None	None	None	N
Q/G	0.2868	likely_benign	0.3342	benign	-1.197	Destabilizing	0.495	N	0.336	neutral	None	None	None	None	N
Q/H	0.1907	likely_benign	0.2089	benign	-0.948	Destabilizing	0.927	D	0.423	neutral	N	0.466687331	None	None	N
Q/I	0.1896	likely_benign	0.2148	benign	0.136	Stabilizing	0.704	D	0.578	neutral	None	None	None	None	N
Q/K	0.1041	likely_benign	0.1199	benign	-0.316	Destabilizing	0.002	N	0.114	neutral	N	0.431649251	None	None	N
Q/L	0.1077	likely_benign	0.1129	benign	0.136	Stabilizing	0.425	N	0.388	neutral	N	0.466167256	None	None	N
Q/M	0.2357	likely_benign	0.2528	benign	0.599	Stabilizing	0.981	D	0.441	neutral	None	None	None	None	N
Q/N	0.1907	likely_benign	0.2197	benign	-0.904	Destabilizing	0.031	N	0.126	neutral	None	None	None	None	N
Q/P	0.208	likely_benign	0.2427	benign	-0.154	Destabilizing	0.784	D	0.431	neutral	N	0.463473668	None	None	N
Q/R	0.1226	likely_benign	0.1391	benign	-0.261	Destabilizing	0.27	N	0.309	neutral	N	0.44202096	None	None	N
Q/S	0.1579	likely_benign	0.1835	benign	-1.089	Destabilizing	0.037	N	0.125	neutral	None	None	None	None	N
Q/T	0.1097	likely_benign	0.123	benign	-0.765	Destabilizing	0.013	N	0.204	neutral	None	None	None	None	N
Q/V	0.1296	likely_benign	0.1457	benign	-0.154	Destabilizing	0.495	N	0.434	neutral	None	None	None	None	N
Q/W	0.5271	ambiguous	0.5458	ambiguous	-0.281	Destabilizing	0.995	D	0.519	neutral	None	None	None	None	N
Q/Y	0.3562	ambiguous	0.3929	ambiguous	-0.065	Destabilizing	0.981	D	0.538	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.