TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30994	93205;93206;93207	chr2:178548646;178548645;178548644	chr2:179413373;179413372;179413371
N2AB	29353	88282;88283;88284	chr2:178548646;178548645;178548644	chr2:179413373;179413372;179413371
N2A	28426	85501;85502;85503	chr2:178548646;178548645;178548644	chr2:179413373;179413372;179413371
N2B	21929	66010;66011;66012	chr2:178548646;178548645;178548644	chr2:179413373;179413372;179413371
Novex-1	22054	66385;66386;66387	chr2:178548646;178548645;178548644	chr2:179413373;179413372;179413371
Novex-2	22121	66586;66587;66588	chr2:178548646;178548645;178548644	chr2:179413373;179413372;179413371
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Y
• RefSeq wild type transcript codon: TAT
• RefSeq wild type template codon: ATA
• Domain: Ig-150
• Domain position: 68
• Structural Position: 154
• Q(SASA): 0.2176
• 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
Y/H	rs1698158751	None	0.999	D	0.72	0.913	0.772078283374	gnomAD-4.0.0	6.8418E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99447E-07	0	0
Y/N	None	None	0.999	D	0.792	0.868	0.925938900894	gnomAD-4.0.0	6.8418E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99447E-07	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
Y/A	0.9992	likely_pathogenic	0.9989	pathogenic	-1.35	Destabilizing	0.992	D	0.759	deleterious	None	None	None	None	N
Y/C	0.9889	likely_pathogenic	0.9859	pathogenic	-0.904	Destabilizing	0.391	N	0.685	prob.neutral	D	0.631135589	None	None	N
Y/D	0.9989	likely_pathogenic	0.9985	pathogenic	-2.082	Highly Destabilizing	0.999	D	0.803	deleterious	D	0.631135589	None	None	N
Y/E	0.9996	likely_pathogenic	0.9996	pathogenic	-1.834	Destabilizing	1.0	D	0.787	deleterious	None	None	None	None	N
Y/F	0.3238	likely_benign	0.3213	benign	-0.222	Destabilizing	0.998	D	0.681	prob.neutral	D	0.552301407	None	None	N
Y/G	0.9975	likely_pathogenic	0.9966	pathogenic	-1.785	Destabilizing	0.999	D	0.796	deleterious	None	None	None	None	N
Y/H	0.993	likely_pathogenic	0.9918	pathogenic	-1.565	Destabilizing	0.999	D	0.72	prob.delet.	D	0.630933785	None	None	N
Y/I	0.9789	likely_pathogenic	0.9754	pathogenic	0.068	Stabilizing	0.999	D	0.747	deleterious	None	None	None	None	N
Y/K	0.9997	likely_pathogenic	0.9996	pathogenic	-1.129	Destabilizing	1.0	D	0.785	deleterious	None	None	None	None	N
Y/L	0.9629	likely_pathogenic	0.9543	pathogenic	0.068	Stabilizing	0.992	D	0.725	prob.delet.	None	None	None	None	N
Y/M	0.9914	likely_pathogenic	0.9894	pathogenic	-0.166	Destabilizing	1.0	D	0.741	deleterious	None	None	None	None	N
Y/N	0.995	likely_pathogenic	0.9932	pathogenic	-2.008	Highly Destabilizing	0.999	D	0.792	deleterious	D	0.631135589	None	None	N
Y/P	0.9997	likely_pathogenic	0.9996	pathogenic	-0.416	Destabilizing	1.0	D	0.804	deleterious	None	None	None	None	N
Y/Q	0.9997	likely_pathogenic	0.9996	pathogenic	-1.487	Destabilizing	1.0	D	0.747	deleterious	None	None	None	None	N
Y/R	0.999	likely_pathogenic	0.9988	pathogenic	-1.709	Destabilizing	1.0	D	0.79	deleterious	None	None	None	None	N
Y/S	0.9983	likely_pathogenic	0.9977	pathogenic	-2.274	Highly Destabilizing	0.998	D	0.759	deleterious	D	0.631135589	None	None	N
Y/T	0.9992	likely_pathogenic	0.9989	pathogenic	-1.876	Destabilizing	0.999	D	0.771	deleterious	None	None	None	None	N
Y/V	0.9771	likely_pathogenic	0.9731	pathogenic	-0.416	Destabilizing	0.992	D	0.753	deleterious	None	None	None	None	N
Y/W	0.902	likely_pathogenic	0.8943	pathogenic	0.288	Stabilizing	1.0	D	0.709	prob.delet.	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.