TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5861	17806;17807;17808	chr2:178731084;178731083;178731082	chr2:179595811;179595810;179595809
N2AB	5544	16855;16856;16857	chr2:178731084;178731083;178731082	chr2:179595811;179595810;179595809
N2A	4617	14074;14075;14076	chr2:178731084;178731083;178731082	chr2:179595811;179595810;179595809
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: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-42
• Domain position: 39
• Structural Position: 55
• Q(SASA): 0.6282
• 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	0.001	N	0.151	0.146	0.228597637076	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	0.1709	likely_benign	0.1843	benign	-0.25	Destabilizing	0.025	N	0.275	neutral	None	None	None	None	N
Q/C	0.395	ambiguous	0.4342	ambiguous	0.095	Stabilizing	0.958	D	0.263	neutral	None	None	None	None	N
Q/D	0.2732	likely_benign	0.3152	benign	0.135	Stabilizing	0.055	N	0.179	neutral	None	None	None	None	N
Q/E	0.074	likely_benign	0.0795	benign	0.134	Stabilizing	0.001	N	0.151	neutral	N	0.483014726	None	None	N
Q/F	0.4545	ambiguous	0.5068	ambiguous	-0.34	Destabilizing	0.859	D	0.284	neutral	None	None	None	None	N
Q/G	0.2222	likely_benign	0.2457	benign	-0.471	Destabilizing	0.104	N	0.304	neutral	None	None	None	None	N
Q/H	0.1302	likely_benign	0.1419	benign	-0.266	Destabilizing	0.602	D	0.228	neutral	N	0.500256479	None	None	N
Q/I	0.2012	likely_benign	0.2261	benign	0.252	Stabilizing	0.667	D	0.355	neutral	None	None	None	None	N
Q/K	0.0572	likely_benign	0.0608	benign	0.016	Stabilizing	None	N	0.141	neutral	N	0.418464602	None	None	N
Q/L	0.0995	likely_benign	0.1059	benign	0.252	Stabilizing	0.081	N	0.316	neutral	N	0.512204269	None	None	N
Q/M	0.2223	likely_benign	0.2447	benign	0.376	Stabilizing	0.859	D	0.244	neutral	None	None	None	None	N
Q/N	0.1804	likely_benign	0.2107	benign	-0.387	Destabilizing	0.002	N	0.171	neutral	None	None	None	None	N
Q/P	0.454	ambiguous	0.5409	ambiguous	0.114	Stabilizing	0.301	N	0.32	neutral	N	0.501674352	None	None	N
Q/R	0.0704	likely_benign	0.0728	benign	0.161	Stabilizing	0.042	N	0.187	neutral	N	0.470568291	None	None	N
Q/S	0.1918	likely_benign	0.2082	benign	-0.396	Destabilizing	0.025	N	0.169	neutral	None	None	None	None	N
Q/T	0.1375	likely_benign	0.1546	benign	-0.231	Destabilizing	0.104	N	0.337	neutral	None	None	None	None	N
Q/V	0.1492	likely_benign	0.1557	benign	0.114	Stabilizing	0.22	N	0.339	neutral	None	None	None	None	N
Q/W	0.3408	ambiguous	0.3757	ambiguous	-0.311	Destabilizing	0.958	D	0.276	neutral	None	None	None	None	N
Q/Y	0.3034	likely_benign	0.344	ambiguous	-0.062	Destabilizing	0.859	D	0.332	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.