TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6055	18388;18389;18390	chr2:178730237;178730236;178730235	chr2:179594964;179594963;179594962
N2AB	5738	17437;17438;17439	chr2:178730237;178730236;178730235	chr2:179594964;179594963;179594962
N2A	4811	14656;14657;14658	chr2:178730237;178730236;178730235	chr2:179594964;179594963;179594962
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-44
• Domain position: 44
• Structural Position: 73
• Q(SASA): 0.3658
• 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/E	rs879034244	None	0.669	N	0.373	0.246	0.407357902709	gnomAD-4.0.0	2.7375E-06	None	None	None	None	N	None	0	2.23944E-05	None	0	0	None	0	0	1.79915E-06	0	1.65728E-05

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	0.2181	likely_benign	0.2497	benign	-0.2	Destabilizing	0.454	N	0.401	neutral	N	0.466949969	None	None	N
G/C	0.4672	ambiguous	0.5323	ambiguous	-0.923	Destabilizing	0.998	D	0.459	neutral	None	None	None	None	N
G/D	0.3299	likely_benign	0.4425	ambiguous	-0.15	Destabilizing	0.016	N	0.277	neutral	None	None	None	None	N
G/E	0.4657	ambiguous	0.5915	pathogenic	-0.299	Destabilizing	0.669	D	0.373	neutral	N	0.470468688	None	None	N
G/F	0.7949	likely_pathogenic	0.8414	pathogenic	-0.863	Destabilizing	0.974	D	0.438	neutral	None	None	None	None	N
G/H	0.645	likely_pathogenic	0.7084	pathogenic	-0.332	Destabilizing	0.993	D	0.373	neutral	None	None	None	None	N
G/I	0.5994	likely_pathogenic	0.6676	pathogenic	-0.367	Destabilizing	0.949	D	0.449	neutral	None	None	None	None	N
G/K	0.7051	likely_pathogenic	0.7715	pathogenic	-0.592	Destabilizing	0.842	D	0.382	neutral	None	None	None	None	N
G/L	0.6506	likely_pathogenic	0.7244	pathogenic	-0.367	Destabilizing	0.904	D	0.45	neutral	None	None	None	None	N
G/M	0.708	likely_pathogenic	0.7729	pathogenic	-0.566	Destabilizing	0.998	D	0.432	neutral	None	None	None	None	N
G/N	0.4054	ambiguous	0.482	ambiguous	-0.323	Destabilizing	0.067	N	0.27	neutral	None	None	None	None	N
G/P	0.9343	likely_pathogenic	0.9455	pathogenic	-0.282	Destabilizing	0.974	D	0.401	neutral	None	None	None	None	N
G/Q	0.6025	likely_pathogenic	0.6734	pathogenic	-0.537	Destabilizing	0.974	D	0.397	neutral	None	None	None	None	N
G/R	0.5613	ambiguous	0.6316	pathogenic	-0.244	Destabilizing	0.934	D	0.399	neutral	N	0.511064466	None	None	N
G/S	0.1031	likely_benign	0.126	benign	-0.524	Destabilizing	0.172	N	0.193	neutral	None	None	None	None	N
G/T	0.2007	likely_benign	0.2545	benign	-0.591	Destabilizing	0.067	N	0.303	neutral	None	None	None	None	N
G/V	0.3967	ambiguous	0.4659	ambiguous	-0.282	Destabilizing	0.876	D	0.441	neutral	N	0.469534089	None	None	N
G/W	0.7025	likely_pathogenic	0.7649	pathogenic	-1.001	Destabilizing	0.998	D	0.493	neutral	None	None	None	None	N
G/Y	0.7547	likely_pathogenic	0.8074	pathogenic	-0.661	Destabilizing	0.991	D	0.433	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.