TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5619	17080;17081;17082	chr2:178732114;178732113;178732112	chr2:179596841;179596840;179596839
N2AB	5302	16129;16130;16131	chr2:178732114;178732113;178732112	chr2:179596841;179596840;179596839
N2A	4375	13348;13349;13350	chr2:178732114;178732113;178732112	chr2:179596841;179596840;179596839
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-39
• Domain position: 77
• Structural Position: 159
• Q(SASA): 0.5489
• 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/E	None	None	0.27	N	0.257	0.115	0.313518423057	gnomAD-4.0.0	1.59288E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86171E-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	0.2293	likely_benign	0.2147	benign	-0.142	Destabilizing	0.013	N	0.151	neutral	None	None	None	None	N
Q/C	0.4812	ambiguous	0.4495	ambiguous	0.165	Stabilizing	0.995	D	0.483	neutral	None	None	None	None	N
Q/D	0.4536	ambiguous	0.4241	ambiguous	-1.087	Destabilizing	0.495	N	0.265	neutral	None	None	None	None	N
Q/E	0.0923	likely_benign	0.0898	benign	-1.065	Destabilizing	0.27	N	0.257	neutral	N	0.469237352	None	None	N
Q/F	0.558	ambiguous	0.5163	ambiguous	-0.429	Destabilizing	0.981	D	0.502	neutral	None	None	None	None	N
Q/G	0.2576	likely_benign	0.2313	benign	-0.388	Destabilizing	0.495	N	0.472	neutral	None	None	None	None	N
Q/H	0.161	likely_benign	0.1585	benign	-0.682	Destabilizing	0.927	D	0.425	neutral	N	0.469066781	None	None	N
Q/I	0.322	likely_benign	0.2915	benign	0.435	Stabilizing	0.944	D	0.527	neutral	None	None	None	None	N
Q/K	0.0829	likely_benign	0.0743	benign	0.085	Stabilizing	0.002	N	0.103	neutral	N	0.474181812	None	None	N
Q/L	0.1388	likely_benign	0.126	benign	0.435	Stabilizing	0.425	N	0.471	neutral	N	0.513105559	None	None	N
Q/M	0.3479	ambiguous	0.3193	benign	0.981	Stabilizing	0.981	D	0.434	neutral	None	None	None	None	N
Q/N	0.3471	ambiguous	0.314	benign	-0.424	Destabilizing	0.704	D	0.259	neutral	None	None	None	None	N
Q/P	0.7609	likely_pathogenic	0.6911	pathogenic	0.273	Stabilizing	0.784	D	0.497	neutral	N	0.51305343	None	None	N
Q/R	0.0749	likely_benign	0.0709	benign	0.187	Stabilizing	0.006	N	0.105	neutral	N	0.431836544	None	None	N
Q/S	0.258	likely_benign	0.2416	benign	-0.37	Destabilizing	0.037	N	0.097	neutral	None	None	None	None	N
Q/T	0.19	likely_benign	0.172	benign	-0.191	Destabilizing	0.329	N	0.414	neutral	None	None	None	None	N
Q/V	0.212	likely_benign	0.198	benign	0.273	Stabilizing	0.704	D	0.457	neutral	None	None	None	None	N
Q/W	0.3368	likely_benign	0.3135	benign	-0.441	Destabilizing	0.995	D	0.494	neutral	None	None	None	None	N
Q/Y	0.378	ambiguous	0.3434	ambiguous	-0.065	Destabilizing	0.981	D	0.476	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.