TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5898	17917;17918;17919	chr2:178730973;178730972;178730971	chr2:179595700;179595699;179595698
N2AB	5581	16966;16967;16968	chr2:178730973;178730972;178730971	chr2:179595700;179595699;179595698
N2A	4654	14185;14186;14187	chr2:178730973;178730972;178730971	chr2:179595700;179595699;179595698
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: 76
• Structural Position: 159
• Q(SASA): 0.4443
• 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/K	rs1462892188	-0.102	0.425	N	0.333	0.184	0.151104730317	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	5.56E-05	None	0	None	0	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	0.282	likely_benign	0.2577	benign	-0.326	Destabilizing	0.176	N	0.393	neutral	None	None	None	None	N
Q/C	0.6003	likely_pathogenic	0.5543	ambiguous	0.02	Stabilizing	0.995	D	0.552	neutral	None	None	None	None	N
Q/D	0.558	ambiguous	0.5279	ambiguous	-1.134	Destabilizing	0.495	N	0.286	neutral	None	None	None	None	N
Q/E	0.0962	likely_benign	0.0945	benign	-1.077	Destabilizing	0.425	N	0.359	neutral	N	0.451729027	None	None	N
Q/F	0.6916	likely_pathogenic	0.6437	pathogenic	-0.369	Destabilizing	0.944	D	0.586	neutral	None	None	None	None	N
Q/G	0.3485	ambiguous	0.3336	benign	-0.625	Destabilizing	0.329	N	0.543	neutral	None	None	None	None	N
Q/H	0.2381	likely_benign	0.2109	benign	-0.781	Destabilizing	0.006	N	0.217	neutral	N	0.49734946	None	None	N
Q/I	0.421	ambiguous	0.3761	ambiguous	0.407	Stabilizing	0.944	D	0.573	neutral	None	None	None	None	N
Q/K	0.1114	likely_benign	0.1038	benign	-0.138	Destabilizing	0.425	N	0.333	neutral	N	0.444821697	None	None	N
Q/L	0.1814	likely_benign	0.1536	benign	0.407	Stabilizing	0.642	D	0.503	neutral	N	0.496135952	None	None	N
Q/M	0.3833	ambiguous	0.3481	ambiguous	0.908	Stabilizing	0.981	D	0.476	neutral	None	None	None	None	N
Q/N	0.4078	ambiguous	0.3738	ambiguous	-0.686	Destabilizing	0.495	N	0.272	neutral	None	None	None	None	N
Q/P	0.8871	likely_pathogenic	0.8876	pathogenic	0.194	Stabilizing	0.784	D	0.498	neutral	D	0.522034474	None	None	N
Q/R	0.1119	likely_benign	0.1086	benign	-0.048	Destabilizing	0.642	D	0.305	neutral	N	0.455270764	None	None	N
Q/S	0.3013	likely_benign	0.2678	benign	-0.677	Destabilizing	0.004	N	0.109	neutral	None	None	None	None	N
Q/T	0.2068	likely_benign	0.1893	benign	-0.45	Destabilizing	0.329	N	0.433	neutral	None	None	None	None	N
Q/V	0.2888	likely_benign	0.2608	benign	0.194	Stabilizing	0.704	D	0.533	neutral	None	None	None	None	N
Q/W	0.5215	ambiguous	0.4709	ambiguous	-0.338	Destabilizing	0.995	D	0.556	neutral	None	None	None	None	N
Q/Y	0.4979	ambiguous	0.4571	ambiguous	-0.006	Destabilizing	0.893	D	0.5	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.