TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	21212	63859;63860;63861	chr2:178587675;178587674;178587673	chr2:179452402;179452401;179452400
N2AB	19571	58936;58937;58938	chr2:178587675;178587674;178587673	chr2:179452402;179452401;179452400
N2A	18644	56155;56156;56157	chr2:178587675;178587674;178587673	chr2:179452402;179452401;179452400
N2B	12147	36664;36665;36666	chr2:178587675;178587674;178587673	chr2:179452402;179452401;179452400
Novex-1	12272	37039;37040;37041	chr2:178587675;178587674;178587673	chr2:179452402;179452401;179452400
Novex-2	12339	37240;37241;37242	chr2:178587675;178587674;178587673	chr2:179452402;179452401;179452400
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-123
• Domain position: 36
• Structural Position: 52
• Q(SASA): 0.3842
• 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
G/S	rs1381842230	-0.742	1.0	N	0.687	0.527	0.341460817117	gnomAD-4.0.0	1.3691E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.99722E-07	0	1.65766E-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
G/A	0.4376	ambiguous	0.4664	ambiguous	-0.404	Destabilizing	1.0	D	0.595	neutral	N	0.49739585	None	None	I
G/C	0.5382	ambiguous	0.561	ambiguous	-1.097	Destabilizing	1.0	D	0.703	prob.neutral	D	0.527870369	None	None	I
G/D	0.4395	ambiguous	0.4383	ambiguous	-0.776	Destabilizing	1.0	D	0.677	prob.neutral	N	0.448250712	None	None	I
G/E	0.5767	likely_pathogenic	0.6033	pathogenic	-0.921	Destabilizing	1.0	D	0.671	neutral	None	None	None	None	I
G/F	0.9134	likely_pathogenic	0.9202	pathogenic	-1.099	Destabilizing	1.0	D	0.7	prob.neutral	None	None	None	None	I
G/H	0.7943	likely_pathogenic	0.805	pathogenic	-0.416	Destabilizing	1.0	D	0.674	neutral	None	None	None	None	I
G/I	0.8021	likely_pathogenic	0.824	pathogenic	-0.621	Destabilizing	1.0	D	0.709	prob.delet.	None	None	None	None	I
G/K	0.8975	likely_pathogenic	0.9039	pathogenic	-0.887	Destabilizing	1.0	D	0.674	neutral	None	None	None	None	I
G/L	0.8523	likely_pathogenic	0.8697	pathogenic	-0.621	Destabilizing	1.0	D	0.708	prob.delet.	None	None	None	None	I
G/M	0.8579	likely_pathogenic	0.8764	pathogenic	-0.846	Destabilizing	1.0	D	0.696	prob.neutral	None	None	None	None	I
G/N	0.4648	ambiguous	0.4908	ambiguous	-0.612	Destabilizing	1.0	D	0.689	prob.neutral	None	None	None	None	I
G/P	0.9406	likely_pathogenic	0.9535	pathogenic	-0.524	Destabilizing	1.0	D	0.691	prob.neutral	None	None	None	None	I
G/Q	0.7474	likely_pathogenic	0.7691	pathogenic	-0.862	Destabilizing	1.0	D	0.703	prob.neutral	None	None	None	None	I
G/R	0.8287	likely_pathogenic	0.8325	pathogenic	-0.437	Destabilizing	1.0	D	0.701	prob.neutral	N	0.494673599	None	None	I
G/S	0.2539	likely_benign	0.2678	benign	-0.747	Destabilizing	1.0	D	0.687	prob.neutral	N	0.479745668	None	None	I
G/T	0.4949	ambiguous	0.5374	ambiguous	-0.828	Destabilizing	1.0	D	0.671	neutral	None	None	None	None	I
G/V	0.7052	likely_pathogenic	0.7318	pathogenic	-0.524	Destabilizing	1.0	D	0.695	prob.neutral	D	0.527870369	None	None	I
G/W	0.7853	likely_pathogenic	0.7952	pathogenic	-1.192	Destabilizing	1.0	D	0.675	neutral	None	None	None	None	I
G/Y	0.843	likely_pathogenic	0.855	pathogenic	-0.908	Destabilizing	1.0	D	0.699	prob.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.