TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6081	18466;18467;18468	chr2:178730159;178730158;178730157	chr2:179594886;179594885;179594884
N2AB	5764	17515;17516;17517	chr2:178730159;178730158;178730157	chr2:179594886;179594885;179594884
N2A	4837	14734;14735;14736	chr2:178730159;178730158;178730157	chr2:179594886;179594885;179594884
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: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-44
• Domain position: 70
• Structural Position: 153
• Q(SASA): 0.3573
• 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/A	None	None	0.08	D	0.254	0.241	0.18995819373	gnomAD-4.0.0	4.80129E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	3.9375E-06	0	3.66327E-05

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	0.0743	likely_benign	0.0736	benign	-1.196	Destabilizing	0.08	N	0.254	neutral	D	0.527189578	None	None	N
T/C	0.4204	ambiguous	0.379	ambiguous	-0.659	Destabilizing	0.965	D	0.455	neutral	None	None	None	None	N
T/D	0.2104	likely_benign	0.183	benign	-0.07	Destabilizing	0.002	N	0.162	neutral	None	None	None	None	N
T/E	0.2138	likely_benign	0.193	benign	-0.043	Destabilizing	0.002	N	0.161	neutral	None	None	None	None	N
T/F	0.1587	likely_benign	0.1527	benign	-1.209	Destabilizing	0.818	D	0.572	neutral	None	None	None	None	N
T/G	0.2348	likely_benign	0.2173	benign	-1.473	Destabilizing	0.209	N	0.295	neutral	None	None	None	None	N
T/H	0.1879	likely_benign	0.172	benign	-1.605	Destabilizing	0.901	D	0.518	neutral	None	None	None	None	N
T/I	0.0988	likely_benign	0.0946	benign	-0.535	Destabilizing	0.003	N	0.213	neutral	N	0.516319223	None	None	N
T/K	0.1909	likely_benign	0.176	benign	-0.691	Destabilizing	0.209	N	0.357	neutral	None	None	None	None	N
T/L	0.082	likely_benign	0.0798	benign	-0.535	Destabilizing	0.209	N	0.341	neutral	None	None	None	None	N
T/M	0.0856	likely_benign	0.0856	benign	-0.199	Destabilizing	0.818	D	0.47	neutral	None	None	None	None	N
T/N	0.0656	likely_benign	0.0653	benign	-0.673	Destabilizing	0.001	N	0.144	neutral	N	0.480398495	None	None	N
T/P	0.1361	likely_benign	0.128	benign	-0.724	Destabilizing	0.662	D	0.449	neutral	N	0.497302578	None	None	N
T/Q	0.1845	likely_benign	0.1699	benign	-0.815	Destabilizing	0.047	N	0.199	neutral	None	None	None	None	N
T/R	0.1517	likely_benign	0.145	benign	-0.482	Destabilizing	0.561	D	0.449	neutral	None	None	None	None	N
T/S	0.0856	likely_benign	0.0843	benign	-1.081	Destabilizing	0.005	N	0.134	neutral	N	0.498560181	None	None	N
T/V	0.1004	likely_benign	0.0961	benign	-0.724	Destabilizing	0.209	N	0.313	neutral	None	None	None	None	N
T/W	0.4571	ambiguous	0.4478	ambiguous	-1.058	Destabilizing	0.991	D	0.523	neutral	None	None	None	None	N
T/Y	0.175	likely_benign	0.1748	benign	-0.85	Destabilizing	0.965	D	0.57	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.