TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27185	81778;81779;81780	chr2:178564579;178564578;178564577	chr2:179429306;179429305;179429304
N2AB	25544	76855;76856;76857	chr2:178564579;178564578;178564577	chr2:179429306;179429305;179429304
N2A	24617	74074;74075;74076	chr2:178564579;178564578;178564577	chr2:179429306;179429305;179429304
N2B	18120	54583;54584;54585	chr2:178564579;178564578;178564577	chr2:179429306;179429305;179429304
Novex-1	18245	54958;54959;54960	chr2:178564579;178564578;178564577	chr2:179429306;179429305;179429304
Novex-2	18312	55159;55160;55161	chr2:178564579;178564578;178564577	chr2:179429306;179429305;179429304
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Fn3-86
• Domain position: 16
• Structural Position: 18
• Q(SASA): 0.3516
• 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
N/D	None	None	0.22	N	0.467	0.128	0.126345400529	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
N/I	rs756828159	0.037	0.497	N	0.623	0.323	0.559044820595	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	3.27E-05	None	0	0	0
N/I	rs756828159	0.037	0.497	N	0.623	0.323	0.559044820595	gnomAD-4.0.0	1.59206E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43308E-05	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
N/A	0.3407	ambiguous	0.3564	ambiguous	-0.681	Destabilizing	0.157	N	0.458	neutral	None	None	None	None	N
N/C	0.3211	likely_benign	0.3418	ambiguous	0.168	Stabilizing	0.968	D	0.643	neutral	None	None	None	None	N
N/D	0.1829	likely_benign	0.1771	benign	-0.617	Destabilizing	0.22	N	0.467	neutral	N	0.462396233	None	None	N
N/E	0.4743	ambiguous	0.4577	ambiguous	-0.626	Destabilizing	0.157	N	0.46	neutral	None	None	None	None	N
N/F	0.6665	likely_pathogenic	0.6537	pathogenic	-0.989	Destabilizing	0.567	D	0.627	neutral	None	None	None	None	N
N/G	0.3021	likely_benign	0.3122	benign	-0.885	Destabilizing	0.272	N	0.419	neutral	None	None	None	None	N
N/H	0.1121	likely_benign	0.1026	benign	-0.93	Destabilizing	0.002	N	0.348	neutral	N	0.510632897	None	None	N
N/I	0.5251	ambiguous	0.52	ambiguous	-0.214	Destabilizing	0.497	N	0.623	neutral	N	0.502959393	None	None	N
N/K	0.4095	ambiguous	0.3909	ambiguous	-0.041	Destabilizing	0.22	N	0.473	neutral	N	0.512537051	None	None	N
N/L	0.4464	ambiguous	0.4439	ambiguous	-0.214	Destabilizing	0.396	N	0.557	neutral	None	None	None	None	N
N/M	0.4568	ambiguous	0.4606	ambiguous	0.497	Stabilizing	0.968	D	0.568	neutral	None	None	None	None	N
N/P	0.929	likely_pathogenic	0.9242	pathogenic	-0.344	Destabilizing	0.726	D	0.587	neutral	None	None	None	None	N
N/Q	0.35	ambiguous	0.3424	ambiguous	-0.789	Destabilizing	0.567	D	0.481	neutral	None	None	None	None	N
N/R	0.4567	ambiguous	0.4408	ambiguous	0.123	Stabilizing	0.567	D	0.471	neutral	None	None	None	None	N
N/S	0.091	likely_benign	0.0953	benign	-0.446	Destabilizing	0.124	N	0.44	neutral	N	0.432804044	None	None	N
N/T	0.1514	likely_benign	0.1551	benign	-0.306	Destabilizing	0.004	N	0.266	neutral	N	0.456350121	None	None	N
N/V	0.4906	ambiguous	0.5	ambiguous	-0.344	Destabilizing	0.396	N	0.574	neutral	None	None	None	None	N
N/W	0.7894	likely_pathogenic	0.7867	pathogenic	-0.84	Destabilizing	0.968	D	0.635	neutral	None	None	None	None	N
N/Y	0.2294	likely_benign	0.2215	benign	-0.591	Destabilizing	0.331	N	0.575	neutral	N	0.509542759	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.