TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5826	17701;17702;17703	chr2:178731189;178731188;178731187	chr2:179595916;179595915;179595914
N2AB	5509	16750;16751;16752	chr2:178731189;178731188;178731187	chr2:179595916;179595915;179595914
N2A	4582	13969;13970;13971	chr2:178731189;178731188;178731187	chr2:179595916;179595915;179595914
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: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-42
• Domain position: 4
• Structural Position: 4
• Q(SASA): 0.4059
• 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	None	N	0.189	0.079	0.0401082797425	gnomAD-4.0.0	1.5927E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.02572E-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
T/A	0.1014	likely_benign	0.0866	benign	-0.643	Destabilizing	0.027	N	0.25	neutral	N	0.470442234	None	None	N
T/C	0.4679	ambiguous	0.4135	ambiguous	-0.458	Destabilizing	0.935	D	0.309	neutral	None	None	None	None	N
T/D	0.4152	ambiguous	0.3248	benign	0.025	Stabilizing	0.081	N	0.321	neutral	None	None	None	None	N
T/E	0.2502	likely_benign	0.1987	benign	-0.008	Destabilizing	0.005	N	0.137	neutral	None	None	None	None	N
T/F	0.2406	likely_benign	0.1693	benign	-0.848	Destabilizing	0.38	N	0.341	neutral	None	None	None	None	N
T/G	0.322	likely_benign	0.2526	benign	-0.855	Destabilizing	0.149	N	0.296	neutral	None	None	None	None	N
T/H	0.2943	likely_benign	0.2306	benign	-1.139	Destabilizing	0.935	D	0.304	neutral	None	None	None	None	N
T/I	0.094	likely_benign	0.0693	benign	-0.188	Destabilizing	None	N	0.189	neutral	N	0.424096055	None	None	N
T/K	0.1589	likely_benign	0.1389	benign	-0.636	Destabilizing	0.149	N	0.321	neutral	None	None	None	None	N
T/L	0.0786	likely_benign	0.0643	benign	-0.188	Destabilizing	0.012	N	0.278	neutral	None	None	None	None	N
T/M	0.0782	likely_benign	0.0661	benign	0.035	Stabilizing	0.012	N	0.275	neutral	None	None	None	None	N
T/N	0.1656	likely_benign	0.1279	benign	-0.509	Destabilizing	0.484	N	0.341	neutral	N	0.471456192	None	None	N
T/P	0.3441	ambiguous	0.2912	benign	-0.308	Destabilizing	0.741	D	0.361	neutral	N	0.471709682	None	None	N
T/Q	0.21	likely_benign	0.1767	benign	-0.709	Destabilizing	0.38	N	0.349	neutral	None	None	None	None	N
T/R	0.1312	likely_benign	0.1145	benign	-0.371	Destabilizing	0.38	N	0.355	neutral	None	None	None	None	N
T/S	0.1382	likely_benign	0.1135	benign	-0.782	Destabilizing	0.117	N	0.231	neutral	N	0.478527973	None	None	N
T/V	0.0943	likely_benign	0.074	benign	-0.308	Destabilizing	None	N	0.081	neutral	None	None	None	None	N
T/W	0.5546	ambiguous	0.4507	ambiguous	-0.784	Destabilizing	0.935	D	0.376	neutral	None	None	None	None	N
T/Y	0.3254	likely_benign	0.2514	benign	-0.549	Destabilizing	0.555	D	0.329	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.