TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14590	43993;43994;43995	chr2:178631280;178631279;178631278	chr2:179496007;179496006;179496005
N2AB	12949	39070;39071;39072	chr2:178631280;178631279;178631278	chr2:179496007;179496006;179496005
N2A	12022	36289;36290;36291	chr2:178631280;178631279;178631278	chr2:179496007;179496006;179496005
N2B	5525	16798;16799;16800	chr2:178631280;178631279;178631278	chr2:179496007;179496006;179496005
Novex-1	5650	17173;17174;17175	chr2:178631280;178631279;178631278	chr2:179496007;179496006;179496005
Novex-2	5717	17374;17375;17376	chr2:178631280;178631279;178631278	chr2:179496007;179496006;179496005
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-97
• Domain position: 5
• Structural Position: 5
• Q(SASA): 0.2273
• 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/R	None	None	0.028	N	0.368	0.205	0.473538153929	gnomAD-4.0.0	7.54763E-06	None	None	None	None	N	None	0	0	None	0	0	None	1.93065E-05	0	9.00455E-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	0.1381	likely_benign	0.1382	benign	-0.6	Destabilizing	0.454	N	0.41	neutral	N	0.456459362	None	None	N
G/C	0.2704	likely_benign	0.3196	benign	-0.899	Destabilizing	0.998	D	0.563	neutral	None	None	None	None	N
G/D	0.2196	likely_benign	0.2765	benign	-0.786	Destabilizing	0.842	D	0.496	neutral	None	None	None	None	N
G/E	0.16	likely_benign	0.1949	benign	-0.905	Destabilizing	0.801	D	0.503	neutral	N	0.411654099	None	None	N
G/F	0.6734	likely_pathogenic	0.6998	pathogenic	-1.107	Destabilizing	0.974	D	0.599	neutral	None	None	None	None	N
G/H	0.4072	ambiguous	0.4365	ambiguous	-0.976	Destabilizing	0.998	D	0.527	neutral	None	None	None	None	N
G/I	0.3391	likely_benign	0.3574	ambiguous	-0.466	Destabilizing	0.728	D	0.531	neutral	None	None	None	None	N
G/K	0.2811	likely_benign	0.2978	benign	-1.052	Destabilizing	0.728	D	0.512	neutral	None	None	None	None	N
G/L	0.4632	ambiguous	0.4901	ambiguous	-0.466	Destabilizing	0.728	D	0.526	neutral	None	None	None	None	N
G/M	0.5307	ambiguous	0.547	ambiguous	-0.396	Destabilizing	0.974	D	0.564	neutral	None	None	None	None	N
G/N	0.3175	likely_benign	0.3554	ambiguous	-0.674	Destabilizing	0.842	D	0.498	neutral	None	None	None	None	N
G/P	0.9483	likely_pathogenic	0.9627	pathogenic	-0.472	Destabilizing	0.974	D	0.547	neutral	None	None	None	None	N
G/Q	0.2599	likely_benign	0.2827	benign	-0.938	Destabilizing	0.949	D	0.563	neutral	None	None	None	None	N
G/R	0.1841	likely_benign	0.2005	benign	-0.634	Destabilizing	0.028	N	0.368	neutral	N	0.376109605	None	None	N
G/S	0.1027	likely_benign	0.1088	benign	-0.909	Destabilizing	0.067	N	0.296	neutral	None	None	None	None	N
G/T	0.1768	likely_benign	0.1769	benign	-0.951	Destabilizing	0.067	N	0.365	neutral	None	None	None	None	N
G/V	0.2019	likely_benign	0.2144	benign	-0.472	Destabilizing	0.051	N	0.402	neutral	N	0.34102307	None	None	N
G/W	0.4667	ambiguous	0.5132	ambiguous	-1.324	Destabilizing	0.998	D	0.577	neutral	None	None	None	None	N
G/Y	0.5225	ambiguous	0.5632	ambiguous	-0.955	Destabilizing	0.991	D	0.587	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.