TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5207	15844;15845;15846	chr2:178733770;178733769;178733768	chr2:179598497;179598496;179598495
N2AB	4890	14893;14894;14895	chr2:178733770;178733769;178733768	chr2:179598497;179598496;179598495
N2A	3963	12112;12113;12114	chr2:178733770;178733769;178733768	chr2:179598497;179598496;179598495
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: V
• RefSeq wild type transcript codon: GTC
• RefSeq wild type template codon: CAG
• Domain: Ig-35
• Domain position: 40
• Structural Position: 56
• Q(SASA): 0.4873
• 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
V/L	None	None	None	N	0.097	0.116	0.248417906384	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
V/A	0.1212	likely_benign	0.1163	benign	-0.777	Destabilizing	None	N	0.118	neutral	N	0.506933316	None	None	N
V/C	0.5413	ambiguous	0.5449	ambiguous	-0.507	Destabilizing	0.676	D	0.385	neutral	None	None	None	None	N
V/D	0.1818	likely_benign	0.19	benign	-0.695	Destabilizing	0.171	N	0.44	neutral	N	0.504533622	None	None	N
V/E	0.1452	likely_benign	0.1496	benign	-0.8	Destabilizing	0.072	N	0.392	neutral	None	None	None	None	N
V/F	0.1136	likely_benign	0.1114	benign	-0.905	Destabilizing	0.029	N	0.369	neutral	D	0.621340265	None	None	N
V/G	0.1504	likely_benign	0.1488	benign	-0.952	Destabilizing	0.029	N	0.407	neutral	D	0.579939606	None	None	N
V/H	0.3349	likely_benign	0.3546	ambiguous	-0.579	Destabilizing	0.507	D	0.417	neutral	None	None	None	None	N
V/I	0.0622	likely_benign	0.0618	benign	-0.448	Destabilizing	None	N	0.127	neutral	N	0.468349457	None	None	N
V/K	0.1816	likely_benign	0.1856	benign	-0.711	Destabilizing	0.072	N	0.397	neutral	None	None	None	None	N
V/L	0.1097	likely_benign	0.1075	benign	-0.448	Destabilizing	None	N	0.097	neutral	N	0.504450669	None	None	N
V/M	0.0904	likely_benign	0.0908	benign	-0.336	Destabilizing	0.214	N	0.408	neutral	None	None	None	None	N
V/N	0.1259	likely_benign	0.1337	benign	-0.329	Destabilizing	0.214	N	0.432	neutral	None	None	None	None	N
V/P	0.1907	likely_benign	0.1902	benign	-0.522	Destabilizing	0.214	N	0.423	neutral	None	None	None	None	N
V/Q	0.1931	likely_benign	0.2011	benign	-0.607	Destabilizing	0.356	N	0.417	neutral	None	None	None	None	N
V/R	0.1785	likely_benign	0.1784	benign	-0.136	Destabilizing	0.214	N	0.434	neutral	None	None	None	None	N
V/S	0.1376	likely_benign	0.1418	benign	-0.671	Destabilizing	0.038	N	0.362	neutral	None	None	None	None	N
V/T	0.1247	likely_benign	0.1286	benign	-0.683	Destabilizing	None	N	0.191	neutral	None	None	None	None	N
V/W	0.5485	ambiguous	0.5677	pathogenic	-1.004	Destabilizing	0.864	D	0.444	neutral	None	None	None	None	N
V/Y	0.2989	likely_benign	0.312	benign	-0.723	Destabilizing	0.002	N	0.202	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.