TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7102	21529;21530;21531	chr2:178723955;178723954;178723953	chr2:179588682;179588681;179588680
N2AB	6785	20578;20579;20580	chr2:178723955;178723954;178723953	chr2:179588682;179588681;179588680
N2A	5858	17797;17798;17799	chr2:178723955;178723954;178723953	chr2:179588682;179588681;179588680
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-55
• Domain position: 59
• Structural Position: 139
• Q(SASA): 0.2632
• 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/H	None	None	0.927	N	0.512	0.238	0.290590437066	gnomAD-4.0.0	1.59186E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.02535E-05

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	0.2364	likely_benign	0.2381	benign	-0.43	Destabilizing	0.495	N	0.441	neutral	None	None	None	None	N
Q/C	0.5172	ambiguous	0.539	ambiguous	-0.155	Destabilizing	0.995	D	0.605	neutral	None	None	None	None	N
Q/D	0.4246	ambiguous	0.4542	ambiguous	-1.288	Destabilizing	0.329	N	0.486	neutral	None	None	None	None	N
Q/E	0.0922	likely_benign	0.0963	benign	-1.188	Destabilizing	0.001	N	0.285	neutral	N	0.426582653	None	None	N
Q/F	0.5235	ambiguous	0.5238	ambiguous	-0.4	Destabilizing	0.893	D	0.583	neutral	None	None	None	None	N
Q/G	0.3071	likely_benign	0.3315	benign	-0.76	Destabilizing	0.704	D	0.555	neutral	None	None	None	None	N
Q/H	0.1464	likely_benign	0.1489	benign	-0.835	Destabilizing	0.927	D	0.512	neutral	N	0.499618974	None	None	N
Q/I	0.2882	likely_benign	0.2909	benign	0.399	Stabilizing	0.543	D	0.567	neutral	None	None	None	None	N
Q/K	0.0894	likely_benign	0.0933	benign	-0.166	Destabilizing	0.002	N	0.328	neutral	N	0.442456183	None	None	N
Q/L	0.1063	likely_benign	0.1081	benign	0.399	Stabilizing	0.006	N	0.468	neutral	N	0.481609217	None	None	N
Q/M	0.3112	likely_benign	0.316	benign	0.862	Stabilizing	0.893	D	0.498	neutral	None	None	None	None	N
Q/N	0.2789	likely_benign	0.2947	benign	-0.828	Destabilizing	0.704	D	0.482	neutral	None	None	None	None	N
Q/P	0.4849	ambiguous	0.5448	ambiguous	0.153	Stabilizing	0.784	D	0.541	neutral	N	0.50084775	None	None	N
Q/R	0.0882	likely_benign	0.0889	benign	-0.117	Destabilizing	0.27	N	0.516	neutral	N	0.438837087	None	None	N
Q/S	0.2471	likely_benign	0.2534	benign	-0.867	Destabilizing	0.495	N	0.487	neutral	None	None	None	None	N
Q/T	0.1728	likely_benign	0.1749	benign	-0.585	Destabilizing	0.704	D	0.53	neutral	None	None	None	None	N
Q/V	0.2148	likely_benign	0.2122	benign	0.153	Stabilizing	0.543	D	0.553	neutral	None	None	None	None	N
Q/W	0.3629	ambiguous	0.3749	ambiguous	-0.371	Destabilizing	0.995	D	0.602	neutral	None	None	None	None	N
Q/Y	0.3019	likely_benign	0.312	benign	-0.015	Destabilizing	0.981	D	0.561	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.