TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5690	17293;17294;17295	chr2:178731807;178731806;178731805	chr2:179596534;179596533;179596532
N2AB	5373	16342;16343;16344	chr2:178731807;178731806;178731805	chr2:179596534;179596533;179596532
N2A	4446	13561;13562;13563	chr2:178731807;178731806;178731805	chr2:179596534;179596533;179596532
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: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-40
• Domain position: 54
• Structural Position: 134
• Q(SASA): 0.4892
• Predicted PPI site: I

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
H/Y	None	None	0.013	N	0.254	0.14	0.144782658237	gnomAD-4.0.0	1.3684E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.79895E-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
H/A	0.1201	likely_benign	0.1549	benign	-0.404	Destabilizing	None	N	0.253	neutral	None	None	None	None	I
H/C	0.106	likely_benign	0.1371	benign	0.069	Stabilizing	0.316	N	0.524	neutral	None	None	None	None	I
H/D	0.0731	likely_benign	0.0883	benign	-0.511	Destabilizing	None	N	0.179	neutral	N	0.414845507	None	None	I
H/E	0.1061	likely_benign	0.148	benign	-0.416	Destabilizing	None	N	0.189	neutral	None	None	None	None	I
H/F	0.2149	likely_benign	0.2729	benign	0.821	Stabilizing	0.009	N	0.429	neutral	None	None	None	None	I
H/G	0.1056	likely_benign	0.1275	benign	-0.762	Destabilizing	None	N	0.221	neutral	None	None	None	None	I
H/I	0.1906	likely_benign	0.2651	benign	0.573	Stabilizing	0.002	N	0.421	neutral	None	None	None	None	I
H/K	0.0914	likely_benign	0.1173	benign	-0.332	Destabilizing	None	N	0.179	neutral	None	None	None	None	I
H/L	0.0927	likely_benign	0.1229	benign	0.573	Stabilizing	None	N	0.275	neutral	N	0.484457521	None	None	I
H/M	0.2464	likely_benign	0.3136	benign	0.229	Stabilizing	0.021	N	0.489	neutral	None	None	None	None	I
H/N	0.0551	likely_benign	0.0555	benign	-0.628	Destabilizing	0.001	N	0.192	neutral	N	0.421579478	None	None	I
H/P	0.1171	likely_benign	0.1627	benign	0.269	Stabilizing	0.006	N	0.399	neutral	N	0.469816142	None	None	I
H/Q	0.0689	likely_benign	0.09	benign	-0.388	Destabilizing	None	N	0.139	neutral	N	0.446245849	None	None	I
H/R	0.0615	likely_benign	0.0725	benign	-0.928	Destabilizing	None	N	0.158	neutral	N	0.437973083	None	None	I
H/S	0.0865	likely_benign	0.0993	benign	-0.586	Destabilizing	None	N	0.179	neutral	None	None	None	None	I
H/T	0.0996	likely_benign	0.1213	benign	-0.37	Destabilizing	None	N	0.223	neutral	None	None	None	None	I
H/V	0.1575	likely_benign	0.2119	benign	0.269	Stabilizing	0.001	N	0.401	neutral	None	None	None	None	I
H/W	0.2545	likely_benign	0.3487	ambiguous	1.073	Stabilizing	0.316	N	0.475	neutral	None	None	None	None	I
H/Y	0.081	likely_benign	0.0907	benign	1.128	Stabilizing	0.013	N	0.254	neutral	N	0.469642784	None	None	I

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.