TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14115	42568;42569;42570	chr2:178634438;178634437;178634436	chr2:179499165;179499164;179499163
N2AB	12474	37645;37646;37647	chr2:178634438;178634437;178634436	chr2:179499165;179499164;179499163
N2A	11547	34864;34865;34866	chr2:178634438;178634437;178634436	chr2:179499165;179499164;179499163
N2B	5050	15373;15374;15375	chr2:178634438;178634437;178634436	chr2:179499165;179499164;179499163
Novex-1	5175	15748;15749;15750	chr2:178634438;178634437;178634436	chr2:179499165;179499164;179499163
Novex-2	5242	15949;15950;15951	chr2:178634438;178634437;178634436	chr2:179499165;179499164;179499163
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-91
• Domain position: 62
• Structural Position: 145
• Q(SASA): 0.509
• 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	rs2060169705	None	None	N	0.099	0.145	0.24896430686	gnomAD-4.0.0	1.5927E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86048E-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	0.2219	likely_benign	0.2108	benign	-0.675	Destabilizing	None	N	0.139	neutral	None	None	None	None	N
Q/C	0.6968	likely_pathogenic	0.5282	ambiguous	0.014	Stabilizing	0.864	D	0.301	neutral	None	None	None	None	N
Q/D	0.4919	ambiguous	0.4119	ambiguous	-0.671	Destabilizing	0.016	N	0.147	neutral	None	None	None	None	N
Q/E	0.121	likely_benign	0.1007	benign	-0.576	Destabilizing	None	N	0.099	neutral	N	0.410139094	None	None	N
Q/F	0.7528	likely_pathogenic	0.6421	pathogenic	-0.45	Destabilizing	0.214	N	0.355	neutral	None	None	None	None	N
Q/G	0.3232	likely_benign	0.2968	benign	-1.033	Destabilizing	0.016	N	0.303	neutral	None	None	None	None	N
Q/H	0.2877	likely_benign	0.1879	benign	-0.962	Destabilizing	None	N	0.152	neutral	N	0.491324728	None	None	N
Q/I	0.533	ambiguous	0.4086	ambiguous	0.236	Stabilizing	0.038	N	0.372	neutral	None	None	None	None	N
Q/K	0.1086	likely_benign	0.0929	benign	-0.373	Destabilizing	0.012	N	0.177	neutral	N	0.458175275	None	None	N
Q/L	0.19	likely_benign	0.1304	benign	0.236	Stabilizing	0.012	N	0.321	neutral	N	0.48065576	None	None	N
Q/M	0.4173	ambiguous	0.3684	ambiguous	0.798	Stabilizing	0.356	N	0.262	neutral	None	None	None	None	N
Q/N	0.3053	likely_benign	0.2551	benign	-0.947	Destabilizing	0.038	N	0.147	neutral	None	None	None	None	N
Q/P	0.6759	likely_pathogenic	0.5867	pathogenic	-0.036	Destabilizing	0.106	N	0.37	neutral	N	0.511629959	None	None	N
Q/R	0.1238	likely_benign	0.0939	benign	-0.331	Destabilizing	None	N	0.137	neutral	N	0.396525808	None	None	N
Q/S	0.2236	likely_benign	0.2191	benign	-1.017	Destabilizing	0.016	N	0.191	neutral	None	None	None	None	N
Q/T	0.2002	likely_benign	0.1813	benign	-0.721	Destabilizing	0.031	N	0.291	neutral	None	None	None	None	N
Q/V	0.3169	likely_benign	0.2558	benign	-0.036	Destabilizing	0.001	N	0.185	neutral	None	None	None	None	N
Q/W	0.7601	likely_pathogenic	0.6236	pathogenic	-0.346	Destabilizing	0.864	D	0.308	neutral	None	None	None	None	N
Q/Y	0.583	likely_pathogenic	0.4463	ambiguous	-0.117	Destabilizing	0.12	N	0.372	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.