TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8928	27007;27008;27009	chr2:178713352;178713351;178713350	chr2:179578079;179578078;179578077
N2AB	8611	26056;26057;26058	chr2:178713352;178713351;178713350	chr2:179578079;179578078;179578077
N2A	7684	23275;23276;23277	chr2:178713352;178713351;178713350	chr2:179578079;179578078;179578077
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: F
• RefSeq wild type transcript codon: TTC
• RefSeq wild type template codon: AAG
• Domain: Ig-75
• Domain position: 3
• Structural Position: 3
• Q(SASA): 0.1618
• 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
F/L	None	None	0.999	N	0.665	0.681	0.584023569625	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
F/A	0.9949	likely_pathogenic	0.997	pathogenic	-2.716	Highly Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	N
F/C	0.9779	likely_pathogenic	0.9883	pathogenic	-1.731	Destabilizing	1.0	D	0.824	deleterious	D	0.559503653	None	None	N
F/D	0.9993	likely_pathogenic	0.9995	pathogenic	-2.864	Highly Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	N
F/E	0.9993	likely_pathogenic	0.9995	pathogenic	-2.813	Highly Destabilizing	1.0	D	0.843	deleterious	None	None	None	None	N
F/G	0.9982	likely_pathogenic	0.9989	pathogenic	-3.019	Highly Destabilizing	1.0	D	0.839	deleterious	None	None	None	None	N
F/H	0.9927	likely_pathogenic	0.9953	pathogenic	-1.3	Destabilizing	1.0	D	0.8	deleterious	None	None	None	None	N
F/I	0.8008	likely_pathogenic	0.8652	pathogenic	-1.775	Destabilizing	1.0	D	0.783	deleterious	N	0.491799304	None	None	N
F/K	0.9987	likely_pathogenic	0.9993	pathogenic	-1.477	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
F/L	0.9886	likely_pathogenic	0.9946	pathogenic	-1.775	Destabilizing	0.999	D	0.665	neutral	N	0.516201117	None	None	N
F/M	0.9522	likely_pathogenic	0.9712	pathogenic	-1.545	Destabilizing	1.0	D	0.786	deleterious	None	None	None	None	N
F/N	0.9966	likely_pathogenic	0.998	pathogenic	-1.553	Destabilizing	1.0	D	0.851	deleterious	None	None	None	None	N
F/P	0.9994	likely_pathogenic	0.9996	pathogenic	-2.088	Highly Destabilizing	1.0	D	0.855	deleterious	None	None	None	None	N
F/Q	0.9983	likely_pathogenic	0.9989	pathogenic	-1.83	Destabilizing	1.0	D	0.853	deleterious	None	None	None	None	N
F/R	0.9961	likely_pathogenic	0.9976	pathogenic	-0.628	Destabilizing	1.0	D	0.854	deleterious	None	None	None	None	N
F/S	0.9943	likely_pathogenic	0.9968	pathogenic	-2.175	Highly Destabilizing	1.0	D	0.837	deleterious	D	0.570352979	None	None	N
F/T	0.9958	likely_pathogenic	0.9977	pathogenic	-2.031	Highly Destabilizing	1.0	D	0.834	deleterious	None	None	None	None	N
F/V	0.8442	likely_pathogenic	0.8875	pathogenic	-2.088	Highly Destabilizing	1.0	D	0.774	deleterious	N	0.521694846	None	None	N
F/W	0.9522	likely_pathogenic	0.9628	pathogenic	-0.831	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
F/Y	0.793	likely_pathogenic	0.8383	pathogenic	-1.029	Destabilizing	0.999	D	0.633	neutral	D	0.547729274	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.