TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8963	27112;27113;27114	chr2:178713247;178713246;178713245	chr2:179577974;179577973;179577972
N2AB	8646	26161;26162;26163	chr2:178713247;178713246;178713245	chr2:179577974;179577973;179577972
N2A	7719	23380;23381;23382	chr2:178713247;178713246;178713245	chr2:179577974;179577973;179577972
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: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Ig-75
• Domain position: 38
• Structural Position: 52
• Q(SASA): 0.3393
• 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
G/V	rs1225996636	-0.296	0.015	D	0.403	0.438	0.550675598306	gnomAD-4.0.0	1.59306E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86095E-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
G/A	0.2069	likely_benign	0.2418	benign	-0.423	Destabilizing	0.334	N	0.351	neutral	N	0.495091672	None	None	N
G/C	0.3283	likely_benign	0.3906	ambiguous	-0.888	Destabilizing	0.982	D	0.653	neutral	None	None	None	None	N
G/D	0.1427	likely_benign	0.1657	benign	-0.639	Destabilizing	0.539	D	0.436	neutral	None	None	None	None	N
G/E	0.1286	likely_benign	0.1523	benign	-0.78	Destabilizing	0.015	N	0.332	neutral	N	0.484505381	None	None	N
G/F	0.6688	likely_pathogenic	0.7275	pathogenic	-1.018	Destabilizing	0.826	D	0.635	neutral	None	None	None	None	N
G/H	0.3151	likely_benign	0.3412	ambiguous	-0.662	Destabilizing	0.947	D	0.525	neutral	None	None	None	None	N
G/I	0.434	ambiguous	0.5096	ambiguous	-0.454	Destabilizing	0.539	D	0.627	neutral	None	None	None	None	N
G/K	0.1867	likely_benign	0.2055	benign	-0.967	Destabilizing	0.539	D	0.467	neutral	None	None	None	None	N
G/L	0.5454	ambiguous	0.5951	pathogenic	-0.454	Destabilizing	0.539	D	0.587	neutral	None	None	None	None	N
G/M	0.4828	ambiguous	0.544	ambiguous	-0.52	Destabilizing	0.947	D	0.629	neutral	None	None	None	None	N
G/N	0.1877	likely_benign	0.219	benign	-0.618	Destabilizing	0.7	D	0.463	neutral	None	None	None	None	N
G/P	0.9203	likely_pathogenic	0.9271	pathogenic	-0.408	Destabilizing	0.826	D	0.517	neutral	None	None	None	None	N
G/Q	0.1871	likely_benign	0.2033	benign	-0.878	Destabilizing	0.7	D	0.518	neutral	None	None	None	None	N
G/R	0.1639	likely_benign	0.1781	benign	-0.503	Destabilizing	0.008	N	0.295	neutral	N	0.50109238	None	None	N
G/S	0.1345	likely_benign	0.1557	benign	-0.786	Destabilizing	0.399	N	0.419	neutral	None	None	None	None	N
G/T	0.234	likely_benign	0.2662	benign	-0.852	Destabilizing	0.7	D	0.482	neutral	None	None	None	None	N
G/V	0.3387	likely_benign	0.3991	ambiguous	-0.408	Destabilizing	0.015	N	0.403	neutral	D	0.526553696	None	None	N
G/W	0.3879	ambiguous	0.424	ambiguous	-1.204	Destabilizing	0.982	D	0.562	neutral	None	None	None	None	N
G/Y	0.4291	ambiguous	0.4926	ambiguous	-0.852	Destabilizing	0.826	D	0.633	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.