TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	31716	95371;95372;95373	chr2:178546090;178546089;178546088	chr2:179410817;179410816;179410815
N2AB	30075	90448;90449;90450	chr2:178546090;178546089;178546088	chr2:179410817;179410816;179410815
N2A	29148	87667;87668;87669	chr2:178546090;178546089;178546088	chr2:179410817;179410816;179410815
N2B	22651	68176;68177;68178	chr2:178546090;178546089;178546088	chr2:179410817;179410816;179410815
Novex-1	22776	68551;68552;68553	chr2:178546090;178546089;178546088	chr2:179410817;179410816;179410815
Novex-2	22843	68752;68753;68754	chr2:178546090;178546089;178546088	chr2:179410817;179410816;179410815
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Fn3-119
• Domain position: 9
• Structural Position: 11
• Q(SASA): 0.3265
• 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/N	rs879097606	None	0.998	N	0.504	0.259	0.359557344763	gnomAD-4.0.0	1.59902E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.87495E-06	0	0
T/S	None	None	0.828	N	0.476	0.142	0.228597637076	gnomAD-4.0.0	1.59929E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.87578E-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	0.0711	likely_benign	0.0765	benign	-0.538	Destabilizing	0.116	N	0.155	neutral	N	0.470690429	None	None	N
T/C	0.2809	likely_benign	0.3134	benign	-0.447	Destabilizing	1.0	D	0.542	neutral	None	None	None	None	N
T/D	0.253	likely_benign	0.3116	benign	0.433	Stabilizing	0.995	D	0.545	neutral	None	None	None	None	N
T/E	0.1836	likely_benign	0.2131	benign	0.41	Stabilizing	0.984	D	0.496	neutral	None	None	None	None	N
T/F	0.1645	likely_benign	0.1943	benign	-0.813	Destabilizing	0.991	D	0.609	neutral	None	None	None	None	N
T/G	0.1937	likely_benign	0.2398	benign	-0.739	Destabilizing	0.969	D	0.545	neutral	None	None	None	None	N
T/H	0.1629	likely_benign	0.1865	benign	-0.989	Destabilizing	1.0	D	0.601	neutral	None	None	None	None	N
T/I	0.0926	likely_benign	0.1088	benign	-0.115	Destabilizing	0.921	D	0.481	neutral	N	0.514577279	None	None	N
T/K	0.1531	likely_benign	0.1754	benign	-0.39	Destabilizing	0.984	D	0.487	neutral	None	None	None	None	N
T/L	0.0769	likely_benign	0.0852	benign	-0.115	Destabilizing	0.088	N	0.264	neutral	None	None	None	None	N
T/M	0.0794	likely_benign	0.0858	benign	-0.091	Destabilizing	0.991	D	0.549	neutral	None	None	None	None	N
T/N	0.0955	likely_benign	0.112	benign	-0.325	Destabilizing	0.998	D	0.504	neutral	N	0.49385529	None	None	N
T/P	0.3673	ambiguous	0.4317	ambiguous	-0.224	Destabilizing	0.994	D	0.561	neutral	N	0.506353208	None	None	N
T/Q	0.1529	likely_benign	0.1762	benign	-0.443	Destabilizing	0.999	D	0.543	neutral	None	None	None	None	N
T/R	0.139	likely_benign	0.1545	benign	-0.223	Destabilizing	0.995	D	0.561	neutral	None	None	None	None	N
T/S	0.085	likely_benign	0.0976	benign	-0.614	Destabilizing	0.828	D	0.476	neutral	N	0.475093384	None	None	N
T/V	0.0797	likely_benign	0.088	benign	-0.224	Destabilizing	0.293	N	0.197	neutral	None	None	None	None	N
T/W	0.4587	ambiguous	0.5315	ambiguous	-0.788	Destabilizing	1.0	D	0.635	neutral	None	None	None	None	N
T/Y	0.1996	likely_benign	0.2303	benign	-0.51	Destabilizing	0.999	D	0.607	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.