TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15826	47701;47702;47703	chr2:178617875;178617874;178617873	chr2:179482602;179482601;179482600
N2AB	14185	42778;42779;42780	chr2:178617875;178617874;178617873	chr2:179482602;179482601;179482600
N2A	13258	39997;39998;39999	chr2:178617875;178617874;178617873	chr2:179482602;179482601;179482600
N2B	6761	20506;20507;20508	chr2:178617875;178617874;178617873	chr2:179482602;179482601;179482600
Novex-1	6886	20881;20882;20883	chr2:178617875;178617874;178617873	chr2:179482602;179482601;179482600
Novex-2	6953	21082;21083;21084	chr2:178617875;178617874;178617873	chr2:179482602;179482601;179482600
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: Fn3-2
• Domain position: 69
• Structural Position: 100
• Q(SASA): 0.3902
• 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	rs754841763	-0.794	0.993	D	0.791	0.527	0.767157909256	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	3.27E-05	None	0	0	0
G/R	rs754841763	-0.794	0.993	D	0.791	0.527	0.767157909256	gnomAD-4.0.0	1.59357E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.4334E-05	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	0.4004	ambiguous	0.4351	ambiguous	-0.588	Destabilizing	0.977	D	0.575	neutral	N	0.519793575	None	None	N
G/C	0.4628	ambiguous	0.4616	ambiguous	-0.898	Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
G/D	0.1767	likely_benign	0.194	benign	-1.124	Destabilizing	0.966	D	0.621	neutral	None	None	None	None	N
G/E	0.3057	likely_benign	0.3445	ambiguous	-1.253	Destabilizing	0.993	D	0.713	prob.delet.	N	0.519793575	None	None	N
G/F	0.7624	likely_pathogenic	0.7947	pathogenic	-1.081	Destabilizing	1.0	D	0.837	deleterious	None	None	None	None	N
G/H	0.5589	ambiguous	0.5719	pathogenic	-0.947	Destabilizing	0.999	D	0.823	deleterious	None	None	None	None	N
G/I	0.78	likely_pathogenic	0.8133	pathogenic	-0.512	Destabilizing	0.998	D	0.831	deleterious	None	None	None	None	N
G/K	0.6981	likely_pathogenic	0.6959	pathogenic	-1.313	Destabilizing	0.995	D	0.715	prob.delet.	None	None	None	None	N
G/L	0.7072	likely_pathogenic	0.7383	pathogenic	-0.512	Destabilizing	0.998	D	0.795	deleterious	None	None	None	None	N
G/M	0.7155	likely_pathogenic	0.7414	pathogenic	-0.454	Destabilizing	1.0	D	0.848	deleterious	None	None	None	None	N
G/N	0.1724	likely_benign	0.1901	benign	-0.893	Destabilizing	0.069	N	0.325	neutral	None	None	None	None	N
G/P	0.9884	likely_pathogenic	0.9872	pathogenic	-0.501	Destabilizing	0.999	D	0.816	deleterious	None	None	None	None	N
G/Q	0.4947	ambiguous	0.5215	ambiguous	-1.181	Destabilizing	0.998	D	0.815	deleterious	None	None	None	None	N
G/R	0.6269	likely_pathogenic	0.6235	pathogenic	-0.785	Destabilizing	0.993	D	0.791	deleterious	D	0.659404956	None	None	N
G/S	0.1622	likely_benign	0.1781	benign	-1.035	Destabilizing	0.966	D	0.569	neutral	None	None	None	None	N
G/T	0.4268	ambiguous	0.456	ambiguous	-1.104	Destabilizing	0.995	D	0.711	prob.delet.	None	None	None	None	N
G/V	0.6695	likely_pathogenic	0.7081	pathogenic	-0.501	Destabilizing	0.997	D	0.808	deleterious	D	0.645245956	None	None	N
G/W	0.6409	likely_pathogenic	0.6552	pathogenic	-1.305	Destabilizing	1.0	D	0.831	deleterious	None	None	None	None	N
G/Y	0.5696	likely_pathogenic	0.6075	pathogenic	-0.969	Destabilizing	1.0	D	0.834	deleterious	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.