TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8831	26716;26717;26718	chr2:178714167;178714166;178714165	chr2:179578894;179578893;179578892
N2AB	8514	25765;25766;25767	chr2:178714167;178714166;178714165	chr2:179578894;179578893;179578892
N2A	7587	22984;22985;22986	chr2:178714167;178714166;178714165	chr2:179578894;179578893;179578892
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-74
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.5005
• 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/A	None	None	None	N	0.085	0.072	0.0716867268079	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
T/A	0.0594	likely_benign	0.0671	benign	-0.761	Destabilizing	None	N	0.085	neutral	N	0.478896985	None	None	N
T/C	0.2419	likely_benign	0.2955	benign	-0.535	Destabilizing	0.356	N	0.29	neutral	None	None	None	None	N
T/D	0.2136	likely_benign	0.2676	benign	0.005	Stabilizing	0.072	N	0.271	neutral	None	None	None	None	N
T/E	0.1471	likely_benign	0.1661	benign	-0.017	Destabilizing	0.016	N	0.241	neutral	None	None	None	None	N
T/F	0.1208	likely_benign	0.1387	benign	-0.962	Destabilizing	0.214	N	0.384	neutral	None	None	None	None	N
T/G	0.1533	likely_benign	0.1823	benign	-0.979	Destabilizing	0.016	N	0.196	neutral	None	None	None	None	N
T/H	0.1438	likely_benign	0.1501	benign	-1.282	Destabilizing	0.356	N	0.31	neutral	None	None	None	None	N
T/I	0.0749	likely_benign	0.0801	benign	-0.282	Destabilizing	0.004	N	0.221	neutral	N	0.514761785	None	None	N
T/K	0.0954	likely_benign	0.0877	benign	-0.589	Destabilizing	None	N	0.159	neutral	N	0.461079229	None	None	N
T/L	0.0653	likely_benign	0.0662	benign	-0.282	Destabilizing	0.007	N	0.217	neutral	None	None	None	None	N
T/M	0.0696	likely_benign	0.0746	benign	-0.042	Destabilizing	0.214	N	0.299	neutral	None	None	None	None	N
T/N	0.0859	likely_benign	0.0968	benign	-0.503	Destabilizing	0.072	N	0.163	neutral	None	None	None	None	N
T/P	0.354	ambiguous	0.4311	ambiguous	-0.411	Destabilizing	0.055	N	0.275	neutral	N	0.489428993	None	None	N
T/Q	0.122	likely_benign	0.1262	benign	-0.71	Destabilizing	0.038	N	0.272	neutral	None	None	None	None	N
T/R	0.0763	likely_benign	0.0705	benign	-0.358	Destabilizing	None	N	0.195	neutral	N	0.438858517	None	None	N
T/S	0.0836	likely_benign	0.0923	benign	-0.798	Destabilizing	0.012	N	0.169	neutral	N	0.471816297	None	None	N
T/V	0.0688	likely_benign	0.0705	benign	-0.411	Destabilizing	None	N	0.098	neutral	None	None	None	None	N
T/W	0.3471	ambiguous	0.4132	ambiguous	-0.869	Destabilizing	0.864	D	0.319	neutral	None	None	None	None	N
T/Y	0.1459	likely_benign	0.1745	benign	-0.628	Destabilizing	0.356	N	0.382	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.