TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28986	87181;87182;87183	chr2:178558503;178558502;178558501	chr2:179423230;179423229;179423228
N2AB	27345	82258;82259;82260	chr2:178558503;178558502;178558501	chr2:179423230;179423229;179423228
N2A	26418	79477;79478;79479	chr2:178558503;178558502;178558501	chr2:179423230;179423229;179423228
N2B	19921	59986;59987;59988	chr2:178558503;178558502;178558501	chr2:179423230;179423229;179423228
Novex-1	20046	60361;60362;60363	chr2:178558503;178558502;178558501	chr2:179423230;179423229;179423228
Novex-2	20113	60562;60563;60564	chr2:178558503;178558502;178558501	chr2:179423230;179423229;179423228
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: Fn3-99
• Domain position: 45
• Structural Position: 60
• Q(SASA): 0.3419
• 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	rs777381679	-0.471	0.999	N	0.344	0.183	0.337621943819	gnomAD-2.1.1	8.05E-06	None	None	None	None	N	None	0	0	None	0	0	None	6.54E-05	None	0	0	0
Q/H	rs777381679	-0.471	0.999	N	0.344	0.183	0.337621943819	gnomAD-4.0.0	2.05263E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	3.47802E-05	0
Q/R	None	None	0.961	N	0.334	0.242	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	0.2471	likely_benign	0.276	benign	-0.312	Destabilizing	0.985	D	0.336	neutral	None	None	None	None	N
Q/C	0.5242	ambiguous	0.5919	pathogenic	0.147	Stabilizing	1.0	D	0.669	neutral	None	None	None	None	N
Q/D	0.3774	ambiguous	0.4187	ambiguous	-0.024	Destabilizing	0.993	D	0.32	neutral	None	None	None	None	N
Q/E	0.0957	likely_benign	0.0971	benign	-0.04	Destabilizing	0.953	D	0.342	neutral	N	0.442015386	None	None	N
Q/F	0.675	likely_pathogenic	0.7245	pathogenic	-0.4	Destabilizing	0.999	D	0.611	neutral	None	None	None	None	N
Q/G	0.2174	likely_benign	0.2435	benign	-0.528	Destabilizing	0.993	D	0.403	neutral	None	None	None	None	N
Q/H	0.1998	likely_benign	0.2396	benign	-0.39	Destabilizing	0.999	D	0.344	neutral	N	0.491598845	None	None	N
Q/I	0.4375	ambiguous	0.478	ambiguous	0.178	Stabilizing	0.999	D	0.605	neutral	None	None	None	None	N
Q/K	0.0947	likely_benign	0.0958	benign	-0.05	Destabilizing	0.4	N	0.311	neutral	N	0.45373389	None	None	N
Q/L	0.1582	likely_benign	0.1769	benign	0.178	Stabilizing	0.99	D	0.403	neutral	N	0.479997771	None	None	N
Q/M	0.364	ambiguous	0.3904	ambiguous	0.438	Stabilizing	0.999	D	0.347	neutral	None	None	None	None	N
Q/N	0.2645	likely_benign	0.2833	benign	-0.362	Destabilizing	0.993	D	0.327	neutral	None	None	None	None	N
Q/P	0.3601	ambiguous	0.4505	ambiguous	0.044	Stabilizing	0.999	D	0.383	neutral	N	0.461969371	None	None	N
Q/R	0.1027	likely_benign	0.1138	benign	0.119	Stabilizing	0.961	D	0.334	neutral	N	0.447885353	None	None	N
Q/S	0.2443	likely_benign	0.2704	benign	-0.377	Destabilizing	0.985	D	0.285	neutral	None	None	None	None	N
Q/T	0.2334	likely_benign	0.2448	benign	-0.233	Destabilizing	0.993	D	0.346	neutral	None	None	None	None	N
Q/V	0.2798	likely_benign	0.3176	benign	0.044	Stabilizing	0.998	D	0.439	neutral	None	None	None	None	N
Q/W	0.5069	ambiguous	0.5958	pathogenic	-0.343	Destabilizing	1.0	D	0.642	neutral	None	None	None	None	N
Q/Y	0.4479	ambiguous	0.5196	ambiguous	-0.114	Destabilizing	0.999	D	0.379	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.