TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8905	26938;26939;26940	chr2:178713945;178713944;178713943	chr2:179578672;179578671;179578670
N2AB	8588	25987;25988;25989	chr2:178713945;178713944;178713943	chr2:179578672;179578671;179578670
N2A	7661	23206;23207;23208	chr2:178713945;178713944;178713943	chr2:179578672;179578671;179578670
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-74
• Domain position: 76
• Structural Position: 159
• Q(SASA): 0.2838
• 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/L	None	None	0.113	N	0.557	0.201	0.443695250439	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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	0.1803	likely_benign	0.1689	benign	-0.355	Destabilizing	0.329	N	0.44	neutral	None	None	None	None	N
Q/C	0.4056	ambiguous	0.4629	ambiguous	0.049	Stabilizing	0.995	D	0.577	neutral	None	None	None	None	N
Q/D	0.3343	likely_benign	0.3207	benign	-1.053	Destabilizing	0.704	D	0.298	neutral	None	None	None	None	N
Q/E	0.0763	likely_benign	0.0757	benign	-0.979	Destabilizing	0.27	N	0.372	neutral	N	0.39947341	None	None	N
Q/F	0.496	ambiguous	0.505	ambiguous	-0.291	Destabilizing	0.893	D	0.609	neutral	None	None	None	None	N
Q/G	0.2148	likely_benign	0.2058	benign	-0.679	Destabilizing	0.495	N	0.539	neutral	None	None	None	None	N
Q/H	0.1463	likely_benign	0.1605	benign	-0.814	Destabilizing	0.975	D	0.492	neutral	N	0.489807412	None	None	N
Q/I	0.2645	likely_benign	0.2673	benign	0.453	Stabilizing	0.543	D	0.623	neutral	None	None	None	None	N
Q/K	0.0817	likely_benign	0.0776	benign	-0.201	Destabilizing	0.002	N	0.101	neutral	N	0.432700549	None	None	N
Q/L	0.1054	likely_benign	0.1135	benign	0.453	Stabilizing	0.113	N	0.557	neutral	N	0.496405311	None	None	N
Q/M	0.2679	likely_benign	0.2568	benign	0.955	Stabilizing	0.085	N	0.121	neutral	None	None	None	None	N
Q/N	0.2426	likely_benign	0.2311	benign	-0.748	Destabilizing	0.704	D	0.332	neutral	None	None	None	None	N
Q/P	0.6803	likely_pathogenic	0.6965	pathogenic	0.215	Stabilizing	0.784	D	0.504	neutral	D	0.527421651	None	None	N
Q/R	0.0852	likely_benign	0.0874	benign	-0.152	Destabilizing	0.473	N	0.299	neutral	N	0.43749308	None	None	N
Q/S	0.1874	likely_benign	0.165	benign	-0.759	Destabilizing	0.037	N	0.111	neutral	None	None	None	None	N
Q/T	0.1381	likely_benign	0.1224	benign	-0.509	Destabilizing	0.329	N	0.452	neutral	None	None	None	None	N
Q/V	0.1787	likely_benign	0.1799	benign	0.215	Stabilizing	0.329	N	0.545	neutral	None	None	None	None	N
Q/W	0.3346	likely_benign	0.3584	ambiguous	-0.26	Destabilizing	0.995	D	0.557	neutral	None	None	None	None	N
Q/Y	0.3139	likely_benign	0.3393	benign	0.055	Stabilizing	0.944	D	0.516	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.