TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	27751	83476;83477;83478	chr2:178562881;178562880;178562879	chr2:179427608;179427607;179427606
N2AB	26110	78553;78554;78555	chr2:178562881;178562880;178562879	chr2:179427608;179427607;179427606
N2A	25183	75772;75773;75774	chr2:178562881;178562880;178562879	chr2:179427608;179427607;179427606
N2B	18686	56281;56282;56283	chr2:178562881;178562880;178562879	chr2:179427608;179427607;179427606
Novex-1	18811	56656;56657;56658	chr2:178562881;178562880;178562879	chr2:179427608;179427607;179427606
Novex-2	18878	56857;56858;56859	chr2:178562881;178562880;178562879	chr2:179427608;179427607;179427606
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-141
• Domain position: 76
• Structural Position: 162
• Q(SASA): 0.6486
• 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/S	rs775527437	0.372	0.007	N	0.097	0.111	0.0611884634855	gnomAD-2.1.1	8.08E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.93E-06	1.66611E-04
N/S	rs775527437	0.372	0.007	N	0.097	0.111	0.0611884634855	gnomAD-4.0.0	4.77742E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.57824E-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
N/A	0.1278	likely_benign	0.1199	benign	-0.165	Destabilizing	0.25	N	0.419	neutral	None	None	None	None	N
N/C	0.1879	likely_benign	0.1727	benign	0.17	Stabilizing	0.992	D	0.362	neutral	None	None	None	None	N
N/D	0.1413	likely_benign	0.1328	benign	-0.016	Destabilizing	0.549	D	0.362	neutral	N	0.439301234	None	None	N
N/E	0.288	likely_benign	0.2736	benign	-0.088	Destabilizing	0.617	D	0.313	neutral	None	None	None	None	N
N/F	0.4179	ambiguous	0.4145	ambiguous	-0.799	Destabilizing	0.85	D	0.379	neutral	None	None	None	None	N
N/G	0.1833	likely_benign	0.1728	benign	-0.234	Destabilizing	0.25	N	0.345	neutral	None	None	None	None	N
N/H	0.0933	likely_benign	0.0922	benign	-0.306	Destabilizing	0.896	D	0.323	neutral	N	0.487036466	None	None	N
N/I	0.1161	likely_benign	0.1205	benign	-0.083	Destabilizing	0.379	N	0.391	neutral	N	0.447267356	None	None	N
N/K	0.1862	likely_benign	0.1718	benign	0.105	Stabilizing	0.379	N	0.31	neutral	N	0.380444932	None	None	N
N/L	0.1455	likely_benign	0.1422	benign	-0.083	Destabilizing	0.002	N	0.179	neutral	None	None	None	None	N
N/M	0.2528	likely_benign	0.2462	benign	0.113	Stabilizing	0.85	D	0.373	neutral	None	None	None	None	N
N/P	0.2257	likely_benign	0.2278	benign	-0.09	Destabilizing	0.005	N	0.221	neutral	None	None	None	None	N
N/Q	0.2161	likely_benign	0.207	benign	-0.265	Destabilizing	0.85	D	0.315	neutral	None	None	None	None	N
N/R	0.2124	likely_benign	0.2025	benign	0.171	Stabilizing	0.617	D	0.318	neutral	None	None	None	None	N
N/S	0.0625	likely_benign	0.0634	benign	-0.02	Destabilizing	0.007	N	0.097	neutral	N	0.345868211	None	None	N
N/T	0.0872	likely_benign	0.085	benign	0.011	Stabilizing	0.201	N	0.334	neutral	N	0.413712143	None	None	N
N/V	0.1215	likely_benign	0.1216	benign	-0.09	Destabilizing	0.447	N	0.397	neutral	None	None	None	None	N
N/W	0.7386	likely_pathogenic	0.7404	pathogenic	-0.932	Destabilizing	0.992	D	0.435	neutral	None	None	None	None	N
N/Y	0.1667	likely_benign	0.165	benign	-0.613	Destabilizing	0.963	D	0.385	neutral	N	0.468181346	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.