TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19051	57376;57377;57378	chr2:178598019;178598018;178598017	chr2:179462746;179462745;179462744
N2AB	17410	52453;52454;52455	chr2:178598019;178598018;178598017	chr2:179462746;179462745;179462744
N2A	16483	49672;49673;49674	chr2:178598019;178598018;178598017	chr2:179462746;179462745;179462744
N2B	9986	30181;30182;30183	chr2:178598019;178598018;178598017	chr2:179462746;179462745;179462744
Novex-1	10111	30556;30557;30558	chr2:178598019;178598018;178598017	chr2:179462746;179462745;179462744
Novex-2	10178	30757;30758;30759	chr2:178598019;178598018;178598017	chr2:179462746;179462745;179462744
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Fn3-26
• Domain position: 64
• Structural Position: 94
• Q(SASA): 0.5136
• 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
T/P	None	None	0.001	N	0.207	0.233	0.148003135375	gnomAD-4.0.0	1.59234E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86E-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
T/A	0.0713	likely_benign	0.0695	benign	-0.472	Destabilizing	None	N	0.123	neutral	N	0.487006675	None	None	N
T/C	0.297	likely_benign	0.2882	benign	-0.32	Destabilizing	0.944	D	0.52	neutral	None	None	None	None	N
T/D	0.3186	likely_benign	0.309	benign	0.525	Stabilizing	0.388	N	0.511	neutral	None	None	None	None	N
T/E	0.2357	likely_benign	0.2334	benign	0.457	Stabilizing	0.388	N	0.453	neutral	None	None	None	None	N
T/F	0.2616	likely_benign	0.2455	benign	-0.997	Destabilizing	0.818	D	0.597	neutral	None	None	None	None	N
T/G	0.1493	likely_benign	0.1527	benign	-0.593	Destabilizing	0.116	N	0.461	neutral	None	None	None	None	N
T/H	0.2026	likely_benign	0.1959	benign	-0.866	Destabilizing	0.981	D	0.574	neutral	None	None	None	None	N
T/I	0.1636	likely_benign	0.1557	benign	-0.273	Destabilizing	0.627	D	0.545	neutral	N	0.512654481	None	None	N
T/K	0.1614	likely_benign	0.1629	benign	-0.227	Destabilizing	0.324	N	0.476	neutral	N	0.447717569	None	None	N
T/L	0.0912	likely_benign	0.0906	benign	-0.273	Destabilizing	0.241	N	0.441	neutral	None	None	None	None	N
T/M	0.0987	likely_benign	0.0927	benign	-0.117	Destabilizing	0.932	D	0.529	neutral	None	None	None	None	N
T/N	0.1047	likely_benign	0.1008	benign	-0.052	Destabilizing	0.818	D	0.445	neutral	None	None	None	None	N
T/P	0.0612	likely_benign	0.0609	benign	-0.311	Destabilizing	0.001	N	0.207	neutral	N	0.464841892	None	None	N
T/Q	0.1664	likely_benign	0.1691	benign	-0.242	Destabilizing	0.818	D	0.551	neutral	None	None	None	None	N
T/R	0.1686	likely_benign	0.1662	benign	-0.026	Destabilizing	0.773	D	0.553	neutral	N	0.47984863	None	None	N
T/S	0.0902	likely_benign	0.0859	benign	-0.332	Destabilizing	0.09	N	0.373	neutral	N	0.445234624	None	None	N
T/V	0.1262	likely_benign	0.1229	benign	-0.311	Destabilizing	0.116	N	0.333	neutral	None	None	None	None	N
T/W	0.5611	ambiguous	0.5345	ambiguous	-0.977	Destabilizing	0.981	D	0.62	neutral	None	None	None	None	N
T/Y	0.2774	likely_benign	0.2519	benign	-0.686	Destabilizing	0.932	D	0.587	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.