TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19585	58978;58979;58980	chr2:178593455;178593454;178593453	chr2:179458182;179458181;179458180
N2AB	17944	54055;54056;54057	chr2:178593455;178593454;178593453	chr2:179458182;179458181;179458180
N2A	17017	51274;51275;51276	chr2:178593455;178593454;178593453	chr2:179458182;179458181;179458180
N2B	10520	31783;31784;31785	chr2:178593455;178593454;178593453	chr2:179458182;179458181;179458180
Novex-1	10645	32158;32159;32160	chr2:178593455;178593454;178593453	chr2:179458182;179458181;179458180
Novex-2	10712	32359;32360;32361	chr2:178593455;178593454;178593453	chr2:179458182;179458181;179458180
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: Fn3-30
• Domain position: 7
• Structural Position: 7
• Q(SASA): 0.5703
• 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	0.625	N	0.395	0.135	0.257292322809	gnomAD-4.0.0	3.60097E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.9375E-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	0.1416	likely_benign	0.1635	benign	-0.542	Destabilizing	0.007	N	0.138	neutral	None	None	None	None	N
Q/C	0.501	ambiguous	0.5643	pathogenic	0.129	Stabilizing	0.993	D	0.401	neutral	None	None	None	None	N
Q/D	0.5135	ambiguous	0.5716	pathogenic	-0.297	Destabilizing	0.915	D	0.4	neutral	None	None	None	None	N
Q/E	0.0959	likely_benign	0.1047	benign	-0.256	Destabilizing	0.625	D	0.395	neutral	N	0.478768407	None	None	N
Q/F	0.5982	likely_pathogenic	0.6512	pathogenic	-0.37	Destabilizing	0.949	D	0.435	neutral	None	None	None	None	N
Q/G	0.35	ambiguous	0.3905	ambiguous	-0.847	Destabilizing	0.728	D	0.386	neutral	None	None	None	None	N
Q/H	0.2908	likely_benign	0.3199	benign	-0.788	Destabilizing	0.989	D	0.395	neutral	N	0.510958184	None	None	N
Q/I	0.2675	likely_benign	0.2974	benign	0.209	Stabilizing	0.904	D	0.423	neutral	None	None	None	None	N
Q/K	0.1128	likely_benign	0.1153	benign	-0.327	Destabilizing	0.801	D	0.414	neutral	N	0.420568253	None	None	N
Q/L	0.1402	likely_benign	0.145	benign	0.209	Stabilizing	0.454	N	0.352	neutral	N	0.506840443	None	None	N
Q/M	0.2523	likely_benign	0.2787	benign	0.668	Stabilizing	0.325	N	0.287	neutral	None	None	None	None	N
Q/N	0.336	likely_benign	0.3809	ambiguous	-0.695	Destabilizing	0.974	D	0.401	neutral	None	None	None	None	N
Q/P	0.1154	likely_benign	0.1287	benign	-0.01	Destabilizing	0.966	D	0.425	neutral	N	0.421723046	None	None	N
Q/R	0.1301	likely_benign	0.1342	benign	-0.232	Destabilizing	0.891	D	0.437	neutral	N	0.446253344	None	None	N
Q/S	0.208	likely_benign	0.2464	benign	-0.756	Destabilizing	0.525	D	0.367	neutral	None	None	None	None	N
Q/T	0.1591	likely_benign	0.1757	benign	-0.534	Destabilizing	0.842	D	0.382	neutral	None	None	None	None	N
Q/V	0.182	likely_benign	0.1994	benign	-0.01	Destabilizing	0.728	D	0.395	neutral	None	None	None	None	N
Q/W	0.6796	likely_pathogenic	0.7029	pathogenic	-0.264	Destabilizing	0.998	D	0.447	neutral	None	None	None	None	N
Q/Y	0.4331	ambiguous	0.4814	ambiguous	-0.068	Destabilizing	0.991	D	0.425	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.