TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20926	63001;63002;63003	chr2:178588949;178588948;178588947	chr2:179453676;179453675;179453674
N2AB	19285	58078;58079;58080	chr2:178588949;178588948;178588947	chr2:179453676;179453675;179453674
N2A	18358	55297;55298;55299	chr2:178588949;178588948;178588947	chr2:179453676;179453675;179453674
N2B	11861	35806;35807;35808	chr2:178588949;178588948;178588947	chr2:179453676;179453675;179453674
Novex-1	11986	36181;36182;36183	chr2:178588949;178588948;178588947	chr2:179453676;179453675;179453674
Novex-2	12053	36382;36383;36384	chr2:178588949;178588948;178588947	chr2:179453676;179453675;179453674
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Fn3-39
• Domain position: 63
• Structural Position: 94
• Q(SASA): 0.2532
• 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
T/R	None	None	0.988	N	0.511	0.409	0.490352026379	gnomAD-4.0.0	1.36932E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	2.31965E-05	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
T/A	0.1156	likely_benign	0.1318	benign	-0.906	Destabilizing	0.704	D	0.409	neutral	N	0.478284999	None	None	N
T/C	0.4331	ambiguous	0.458	ambiguous	-0.536	Destabilizing	0.999	D	0.498	neutral	None	None	None	None	N
T/D	0.6215	likely_pathogenic	0.6695	pathogenic	-0.027	Destabilizing	0.939	D	0.467	neutral	None	None	None	None	N
T/E	0.512	ambiguous	0.552	ambiguous	None	Stabilizing	0.939	D	0.473	neutral	None	None	None	None	N
T/F	0.32	likely_benign	0.3757	ambiguous	-0.839	Destabilizing	0.1	N	0.364	neutral	None	None	None	None	N
T/G	0.2357	likely_benign	0.2623	benign	-1.193	Destabilizing	0.939	D	0.501	neutral	None	None	None	None	N
T/H	0.3333	likely_benign	0.3578	ambiguous	-1.343	Destabilizing	0.999	D	0.563	neutral	None	None	None	None	N
T/I	0.2426	likely_benign	0.2674	benign	-0.225	Destabilizing	0.976	D	0.48	neutral	N	0.47329825	None	None	N
T/K	0.333	likely_benign	0.3512	ambiguous	-0.721	Destabilizing	0.92	D	0.469	neutral	N	0.499434468	None	None	N
T/L	0.1093	likely_benign	0.1257	benign	-0.225	Destabilizing	0.884	D	0.468	neutral	None	None	None	None	N
T/M	0.1009	likely_benign	0.112	benign	-0.03	Destabilizing	0.997	D	0.515	neutral	None	None	None	None	N
T/N	0.1479	likely_benign	0.167	benign	-0.696	Destabilizing	0.939	D	0.459	neutral	None	None	None	None	N
T/P	0.1144	likely_benign	0.1281	benign	-0.419	Destabilizing	0.988	D	0.505	neutral	N	0.499050466	None	None	N
T/Q	0.2808	likely_benign	0.2972	benign	-0.792	Destabilizing	0.991	D	0.519	neutral	None	None	None	None	N
T/R	0.3209	likely_benign	0.3598	ambiguous	-0.528	Destabilizing	0.988	D	0.511	neutral	N	0.51728951	None	None	N
T/S	0.1121	likely_benign	0.1275	benign	-1.044	Destabilizing	0.159	N	0.156	neutral	N	0.493719217	None	None	N
T/V	0.17	likely_benign	0.1895	benign	-0.419	Destabilizing	0.939	D	0.455	neutral	None	None	None	None	N
T/W	0.6696	likely_pathogenic	0.7245	pathogenic	-0.76	Destabilizing	0.999	D	0.579	neutral	None	None	None	None	N
T/Y	0.3707	ambiguous	0.4304	ambiguous	-0.539	Destabilizing	0.964	D	0.543	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.