TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8818	26677;26678;26679	chr2:178714322;178714321;178714320	chr2:179579049;179579048;179579047
N2AB	8501	25726;25727;25728	chr2:178714322;178714321;178714320	chr2:179579049;179579048;179579047
N2A	7574	22945;22946;22947	chr2:178714322;178714321;178714320	chr2:179579049;179579048;179579047
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-73
• Domain position: 83
• Structural Position: 166
• Q(SASA): 0.344
• Predicted PPI site: I

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/K	rs2077133872	None	0.556	N	0.291	0.233	0.273938319068	gnomAD-3.1.2	6.58E-06	None	None	None	None	I	None	0	0	0	0	0	None	0	0	1.47E-05	0	0
Q/K	rs2077133872	None	0.556	N	0.291	0.233	0.273938319068	gnomAD-4.0.0	2.56377E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	4.78964E-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	0.2218	likely_benign	0.237	benign	-0.739	Destabilizing	0.019	N	0.176	neutral	None	None	None	None	I
Q/C	0.6507	likely_pathogenic	0.7099	pathogenic	-0.07	Destabilizing	0.985	D	0.463	neutral	None	None	None	None	I
Q/D	0.4494	ambiguous	0.4705	ambiguous	-0.622	Destabilizing	0.753	D	0.246	neutral	None	None	None	None	I
Q/E	0.0842	likely_benign	0.0889	benign	-0.483	Destabilizing	0.567	D	0.307	neutral	N	0.512393483	None	None	I
Q/F	0.7025	likely_pathogenic	0.7213	pathogenic	-0.266	Destabilizing	0.976	D	0.509	neutral	None	None	None	None	I
Q/G	0.2919	likely_benign	0.3237	benign	-1.122	Destabilizing	0.677	D	0.427	neutral	None	None	None	None	I
Q/H	0.2386	likely_benign	0.2522	benign	-0.763	Destabilizing	0.985	D	0.425	neutral	N	0.498988099	None	None	I
Q/I	0.389	ambiguous	0.4109	ambiguous	0.263	Stabilizing	0.669	D	0.487	neutral	None	None	None	None	I
Q/K	0.1023	likely_benign	0.1042	benign	-0.436	Destabilizing	0.556	D	0.291	neutral	N	0.501965846	None	None	I
Q/L	0.1472	likely_benign	0.1525	benign	0.263	Stabilizing	0.386	N	0.425	neutral	N	0.518455451	None	None	I
Q/M	0.3822	ambiguous	0.3876	ambiguous	0.497	Stabilizing	0.966	D	0.407	neutral	None	None	None	None	I
Q/N	0.3639	ambiguous	0.3692	ambiguous	-0.955	Destabilizing	0.753	D	0.273	neutral	None	None	None	None	I
Q/P	0.556	ambiguous	0.6062	pathogenic	-0.042	Destabilizing	0.823	D	0.507	neutral	D	0.532886186	None	None	I
Q/R	0.0977	likely_benign	0.1032	benign	-0.383	Destabilizing	0.801	D	0.313	neutral	N	0.442149538	None	None	I
Q/S	0.3189	likely_benign	0.3242	benign	-1.106	Destabilizing	0.142	N	0.077	neutral	None	None	None	None	I
Q/T	0.2319	likely_benign	0.2458	benign	-0.776	Destabilizing	0.075	N	0.394	neutral	None	None	None	None	I
Q/V	0.2508	likely_benign	0.2614	benign	-0.042	Destabilizing	0.007	N	0.267	neutral	None	None	None	None	I
Q/W	0.5029	ambiguous	0.5295	ambiguous	-0.181	Destabilizing	0.999	D	0.472	neutral	None	None	None	None	I
Q/Y	0.4708	ambiguous	0.4968	ambiguous	0.048	Stabilizing	0.992	D	0.497	neutral	None	None	None	None	I

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.