TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5980	18163;18164;18165	chr2:178730595;178730594;178730593	chr2:179595322;179595321;179595320
N2AB	5663	17212;17213;17214	chr2:178730595;178730594;178730593	chr2:179595322;179595321;179595320
N2A	4736	14431;14432;14433	chr2:178730595;178730594;178730593	chr2:179595322;179595321;179595320
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-43
• Domain position: 62
• Structural Position: 143
• Q(SASA): 0.4863
• 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/P	None	None	0.065	N	0.331	0.193	0.171388866994	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	0.1813	likely_benign	0.1794	benign	-0.383	Destabilizing	0.008	N	0.199	neutral	None	None	None	None	N
Q/C	0.4492	ambiguous	0.448	ambiguous	0.219	Stabilizing	0.788	D	0.279	neutral	None	None	None	None	N
Q/D	0.1793	likely_benign	0.2006	benign	0.184	Stabilizing	None	N	0.098	neutral	None	None	None	None	N
Q/E	0.0747	likely_benign	0.0775	benign	0.173	Stabilizing	None	N	0.11	neutral	N	0.374205953	None	None	N
Q/F	0.4702	ambiguous	0.4876	ambiguous	-0.506	Destabilizing	0.138	N	0.373	neutral	None	None	None	None	N
Q/G	0.1821	likely_benign	0.1888	benign	-0.597	Destabilizing	0.008	N	0.253	neutral	None	None	None	None	N
Q/H	0.0987	likely_benign	0.1039	benign	-0.527	Destabilizing	None	N	0.144	neutral	N	0.430003307	None	None	N
Q/I	0.3785	ambiguous	0.4004	ambiguous	0.099	Stabilizing	0.085	N	0.398	neutral	None	None	None	None	N
Q/K	0.082	likely_benign	0.0794	benign	0.124	Stabilizing	None	N	0.091	neutral	N	0.391290204	None	None	N
Q/L	0.1164	likely_benign	0.1133	benign	0.099	Stabilizing	0.014	N	0.27	neutral	N	0.417690158	None	None	N
Q/M	0.3075	likely_benign	0.31	benign	0.539	Stabilizing	0.497	N	0.185	neutral	None	None	None	None	N
Q/N	0.1284	likely_benign	0.1439	benign	-0.223	Destabilizing	None	N	0.119	neutral	None	None	None	None	N
Q/P	0.2993	likely_benign	0.3578	ambiguous	-0.033	Destabilizing	0.065	N	0.331	neutral	N	0.419151596	None	None	N
Q/R	0.0834	likely_benign	0.08	benign	0.248	Stabilizing	None	N	0.137	neutral	N	0.356044267	None	None	N
Q/S	0.1661	likely_benign	0.1703	benign	-0.308	Destabilizing	0.008	N	0.189	neutral	None	None	None	None	N
Q/T	0.1895	likely_benign	0.19	benign	-0.149	Destabilizing	0.018	N	0.259	neutral	None	None	None	None	N
Q/V	0.2565	likely_benign	0.2564	benign	-0.033	Destabilizing	0.037	N	0.309	neutral	None	None	None	None	N
Q/W	0.3799	ambiguous	0.4124	ambiguous	-0.408	Destabilizing	0.788	D	0.276	neutral	None	None	None	None	N
Q/Y	0.245	likely_benign	0.2572	benign	-0.176	Destabilizing	0.022	N	0.355	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.