TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17363	52312;52313;52314	chr2:178609223;178609222;178609221	chr2:179473950;179473949;179473948
N2AB	15722	47389;47390;47391	chr2:178609223;178609222;178609221	chr2:179473950;179473949;179473948
N2A	14795	44608;44609;44610	chr2:178609223;178609222;178609221	chr2:179473950;179473949;179473948
N2B	8298	25117;25118;25119	chr2:178609223;178609222;178609221	chr2:179473950;179473949;179473948
Novex-1	8423	25492;25493;25494	chr2:178609223;178609222;178609221	chr2:179473950;179473949;179473948
Novex-2	8490	25693;25694;25695	chr2:178609223;178609222;178609221	chr2:179473950;179473949;179473948
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-112
• Domain position: 113
• Structural Position: 173
• Q(SASA): 0.3808
• 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/I	None	None	0.004	N	0.416	0.145	0.367425347029	gnomAD-4.0.0	7.3252E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.35203E-07	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
T/A	0.0771	likely_benign	0.0754	benign	-0.954	Destabilizing	None	N	0.113	neutral	N	0.486921823	None	None	N
T/C	0.3134	likely_benign	0.304	benign	-0.542	Destabilizing	0.356	N	0.473	neutral	None	None	None	None	N
T/D	0.327	likely_benign	0.2944	benign	0.053	Stabilizing	None	N	0.131	neutral	None	None	None	None	N
T/E	0.2205	likely_benign	0.1937	benign	0.023	Stabilizing	None	N	0.144	neutral	None	None	None	None	N
T/F	0.1515	likely_benign	0.1421	benign	-1.333	Destabilizing	0.214	N	0.589	neutral	None	None	None	None	N
T/G	0.2525	likely_benign	0.2475	benign	-1.137	Destabilizing	0.016	N	0.341	neutral	None	None	None	None	N
T/H	0.1492	likely_benign	0.137	benign	-1.524	Destabilizing	0.356	N	0.527	neutral	None	None	None	None	N
T/I	0.1064	likely_benign	0.0998	benign	-0.563	Destabilizing	0.004	N	0.416	neutral	N	0.487615256	None	None	N
T/K	0.1292	likely_benign	0.1196	benign	-0.493	Destabilizing	None	N	0.131	neutral	None	None	None	None	N
T/L	0.0705	likely_benign	0.0705	benign	-0.563	Destabilizing	0.016	N	0.315	neutral	None	None	None	None	N
T/M	0.0809	likely_benign	0.078	benign	-0.115	Destabilizing	0.214	N	0.479	neutral	None	None	None	None	N
T/N	0.1036	likely_benign	0.0984	benign	-0.353	Destabilizing	0.012	N	0.419	neutral	N	0.467719986	None	None	N
T/P	0.146	likely_benign	0.1476	benign	-0.665	Destabilizing	0.055	N	0.511	neutral	N	0.490380499	None	None	N
T/Q	0.1564	likely_benign	0.1451	benign	-0.622	Destabilizing	0.038	N	0.469	neutral	None	None	None	None	N
T/R	0.1118	likely_benign	0.1045	benign	-0.284	Destabilizing	0.038	N	0.465	neutral	None	None	None	None	N
T/S	0.0962	likely_benign	0.0932	benign	-0.7	Destabilizing	None	N	0.155	neutral	N	0.477203474	None	None	N
T/V	0.0888	likely_benign	0.087	benign	-0.665	Destabilizing	None	N	0.122	neutral	None	None	None	None	N
T/W	0.4356	ambiguous	0.4197	ambiguous	-1.2	Destabilizing	0.864	D	0.536	neutral	None	None	None	None	N
T/Y	0.1642	likely_benign	0.1612	benign	-0.954	Destabilizing	0.356	N	0.589	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.