TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6766	20521;20522;20523	chr2:178726026;178726025;178726024	chr2:179590753;179590752;179590751
N2AB	6449	19570;19571;19572	chr2:178726026;178726025;178726024	chr2:179590753;179590752;179590751
N2A	5522	16789;16790;16791	chr2:178726026;178726025;178726024	chr2:179590753;179590752;179590751
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: F
• RefSeq wild type transcript codon: TTC
• RefSeq wild type template codon: AAG
• Domain: Ig-52
• Domain position: 6
• Structural Position: 7
• Q(SASA): 0.4661
• 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
F/L	None	None	None	N	0.097	0.083	0.154104182512	gnomAD-4.0.0	1.80926E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.2181E-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
F/A	0.1148	likely_benign	0.1237	benign	-1.763	Destabilizing	None	N	0.135	neutral	None	None	None	None	N
F/C	0.1185	likely_benign	0.1177	benign	-0.557	Destabilizing	0.103	N	0.363	neutral	N	0.477435548	None	None	N
F/D	0.3504	ambiguous	0.3366	benign	-0.117	Destabilizing	0.004	N	0.387	neutral	None	None	None	None	N
F/E	0.3602	ambiguous	0.3593	ambiguous	-0.075	Destabilizing	None	N	0.182	neutral	None	None	None	None	N
F/G	0.3121	likely_benign	0.319	benign	-2.059	Highly Destabilizing	0.002	N	0.415	neutral	None	None	None	None	N
F/H	0.1829	likely_benign	0.1763	benign	-0.531	Destabilizing	0.069	N	0.317	neutral	None	None	None	None	N
F/I	0.057	likely_benign	0.0661	benign	-0.91	Destabilizing	None	N	0.107	neutral	N	0.443205544	None	None	N
F/K	0.1818	likely_benign	0.1882	benign	-0.607	Destabilizing	None	N	0.171	neutral	None	None	None	None	N
F/L	0.3191	likely_benign	0.3708	ambiguous	-0.91	Destabilizing	None	N	0.097	neutral	N	0.422888987	None	None	N
F/M	0.1611	likely_benign	0.1751	benign	-0.58	Destabilizing	0.021	N	0.275	neutral	None	None	None	None	N
F/N	0.1736	likely_benign	0.1704	benign	-0.488	Destabilizing	0.009	N	0.436	neutral	None	None	None	None	N
F/P	0.3665	ambiguous	0.4121	ambiguous	-1.183	Destabilizing	0.018	N	0.47	neutral	None	None	None	None	N
F/Q	0.2273	likely_benign	0.2307	benign	-0.581	Destabilizing	None	N	0.206	neutral	None	None	None	None	N
F/R	0.1607	likely_benign	0.1728	benign	-0.043	Destabilizing	0.004	N	0.386	neutral	None	None	None	None	N
F/S	0.0887	likely_benign	0.0923	benign	-1.272	Destabilizing	None	N	0.145	neutral	N	0.414096145	None	None	N
F/T	0.0986	likely_benign	0.1051	benign	-1.136	Destabilizing	None	N	0.151	neutral	None	None	None	None	N
F/V	0.0586	likely_benign	0.0649	benign	-1.183	Destabilizing	None	N	0.127	neutral	N	0.410690481	None	None	N
F/W	0.3574	ambiguous	0.3419	ambiguous	-0.431	Destabilizing	0.132	N	0.287	neutral	None	None	None	None	N
F/Y	0.0961	likely_benign	0.0928	benign	-0.533	Destabilizing	None	N	0.102	neutral	N	0.469720142	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.