TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17298	52117;52118;52119	chr2:178609418;178609417;178609416	chr2:179474145;179474144;179474143
N2AB	15657	47194;47195;47196	chr2:178609418;178609417;178609416	chr2:179474145;179474144;179474143
N2A	14730	44413;44414;44415	chr2:178609418;178609417;178609416	chr2:179474145;179474144;179474143
N2B	8233	24922;24923;24924	chr2:178609418;178609417;178609416	chr2:179474145;179474144;179474143
Novex-1	8358	25297;25298;25299	chr2:178609418;178609417;178609416	chr2:179474145;179474144;179474143
Novex-2	8425	25498;25499;25500	chr2:178609418;178609417;178609416	chr2:179474145;179474144;179474143
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: A
• RefSeq wild type transcript codon: GCA
• RefSeq wild type template codon: CGT
• Domain: Ig-112
• Domain position: 48
• Structural Position: 80
• Q(SASA): 0.3608
• 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
A/T	None	None	None	N	0.268	0.089	0.0611884634855	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	6.07533E-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
A/C	0.3475	ambiguous	0.3444	ambiguous	-0.912	Destabilizing	0.356	N	0.463	neutral	None	None	None	None	N
A/D	0.1775	likely_benign	0.1639	benign	-0.679	Destabilizing	0.038	N	0.488	neutral	None	None	None	None	N
A/E	0.1175	likely_benign	0.1127	benign	-0.808	Destabilizing	None	N	0.305	neutral	N	0.338382091	None	None	N
A/F	0.1888	likely_benign	0.1797	benign	-1.006	Destabilizing	0.214	N	0.573	neutral	None	None	None	None	N
A/G	0.1139	likely_benign	0.1124	benign	-0.354	Destabilizing	0.024	N	0.377	neutral	N	0.427022583	None	None	N
A/H	0.2563	likely_benign	0.2472	benign	-0.289	Destabilizing	0.356	N	0.545	neutral	None	None	None	None	N
A/I	0.1209	likely_benign	0.118	benign	-0.533	Destabilizing	0.013	N	0.452	neutral	None	None	None	None	N
A/K	0.1761	likely_benign	0.1598	benign	-0.679	Destabilizing	None	N	0.327	neutral	None	None	None	None	N
A/L	0.0955	likely_benign	0.0947	benign	-0.533	Destabilizing	0.016	N	0.404	neutral	None	None	None	None	N
A/M	0.1391	likely_benign	0.14	benign	-0.814	Destabilizing	0.356	N	0.497	neutral	None	None	None	None	N
A/N	0.1516	likely_benign	0.1521	benign	-0.385	Destabilizing	0.072	N	0.507	neutral	None	None	None	None	N
A/P	0.0861	likely_benign	0.0805	benign	-0.453	Destabilizing	None	N	0.333	neutral	N	0.427022583	None	None	N
A/Q	0.146	likely_benign	0.1418	benign	-0.61	Destabilizing	0.038	N	0.444	neutral	None	None	None	None	N
A/R	0.1918	likely_benign	0.1747	benign	-0.288	Destabilizing	None	N	0.307	neutral	None	None	None	None	N
A/S	0.0886	likely_benign	0.0898	benign	-0.555	Destabilizing	0.012	N	0.365	neutral	N	0.425982433	None	None	N
A/T	0.0758	likely_benign	0.0746	benign	-0.62	Destabilizing	None	N	0.268	neutral	N	0.388290837	None	None	N
A/V	0.0824	likely_benign	0.0818	benign	-0.453	Destabilizing	None	N	0.307	neutral	N	0.42632915	None	None	N
A/W	0.4936	ambiguous	0.465	ambiguous	-1.091	Destabilizing	0.864	D	0.583	neutral	None	None	None	None	N
A/Y	0.2679	likely_benign	0.2503	benign	-0.814	Destabilizing	0.356	N	0.572	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.