TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29506	88741;88742;88743	chr2:178554943;178554942;178554941	chr2:179419670;179419669;179419668
N2AB	27865	83818;83819;83820	chr2:178554943;178554942;178554941	chr2:179419670;179419669;179419668
N2A	26938	81037;81038;81039	chr2:178554943;178554942;178554941	chr2:179419670;179419669;179419668
N2B	20441	61546;61547;61548	chr2:178554943;178554942;178554941	chr2:179419670;179419669;179419668
Novex-1	20566	61921;61922;61923	chr2:178554943;178554942;178554941	chr2:179419670;179419669;179419668
Novex-2	20633	62122;62123;62124	chr2:178554943;178554942;178554941	chr2:179419670;179419669;179419668
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: L
• RefSeq wild type transcript codon: CTT
• RefSeq wild type template codon: GAA
• Domain: Ig-146
• Domain position: 63
• Structural Position: 148
• Q(SASA): 0.5719
• 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
L/F	None	None	0.982	N	0.545	0.142	0.329020015101	gnomAD-4.0.0	1.36844E-06	None	None	None	None	N	None	0	2.23614E-05	None	0	0	None	0	0	8.99437E-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
L/A	0.0926	likely_benign	0.0994	benign	-0.365	Destabilizing	0.953	D	0.491	neutral	None	None	None	None	N
L/C	0.2319	likely_benign	0.2448	benign	-0.548	Destabilizing	0.999	D	0.591	neutral	None	None	None	None	N
L/D	0.2447	likely_benign	0.2613	benign	-0.064	Destabilizing	0.993	D	0.705	prob.neutral	None	None	None	None	N
L/E	0.1387	likely_benign	0.1453	benign	-0.172	Destabilizing	0.993	D	0.705	prob.neutral	None	None	None	None	N
L/F	0.0865	likely_benign	0.0966	benign	-0.568	Destabilizing	0.982	D	0.545	neutral	N	0.475794312	None	None	N
L/G	0.1938	likely_benign	0.2034	benign	-0.479	Destabilizing	0.993	D	0.711	prob.delet.	None	None	None	None	N
L/H	0.0863	likely_benign	0.0931	benign	0.117	Stabilizing	0.999	D	0.707	prob.neutral	N	0.43208082	None	None	N
L/I	0.0675	likely_benign	0.0706	benign	-0.199	Destabilizing	0.046	N	0.21	neutral	N	0.427579078	None	None	N
L/K	0.0852	likely_benign	0.0899	benign	-0.142	Destabilizing	0.993	D	0.689	prob.neutral	None	None	None	None	N
L/M	0.0792	likely_benign	0.0832	benign	-0.291	Destabilizing	0.986	D	0.558	neutral	None	None	None	None	N
L/N	0.1153	likely_benign	0.1245	benign	0.06	Stabilizing	0.993	D	0.715	prob.delet.	None	None	None	None	N
L/P	0.1964	likely_benign	0.219	benign	-0.223	Destabilizing	0.997	D	0.715	prob.delet.	N	0.456861835	None	None	N
L/Q	0.0605	likely_benign	0.0641	benign	-0.16	Destabilizing	0.998	D	0.681	prob.neutral	None	None	None	None	N
L/R	0.0727	likely_benign	0.0749	benign	0.356	Stabilizing	0.991	D	0.684	prob.neutral	N	0.418727521	None	None	N
L/S	0.0902	likely_benign	0.1005	benign	-0.351	Destabilizing	0.973	D	0.539	neutral	None	None	None	None	N
L/T	0.0958	likely_benign	0.1059	benign	-0.354	Destabilizing	0.386	N	0.28	neutral	None	None	None	None	N
L/V	0.0674	likely_benign	0.0712	benign	-0.223	Destabilizing	0.76	D	0.498	neutral	N	0.432254179	None	None	N
L/W	0.1295	likely_benign	0.1418	benign	-0.597	Destabilizing	0.999	D	0.722	prob.delet.	None	None	None	None	N
L/Y	0.1607	likely_benign	0.1788	benign	-0.325	Destabilizing	0.998	D	0.604	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.