TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6149	18670;18671;18672	chr2:178729808;178729807;178729806	chr2:179594535;179594534;179594533
N2AB	5832	17719;17720;17721	chr2:178729808;178729807;178729806	chr2:179594535;179594534;179594533
N2A	4905	14938;14939;14940	chr2:178729808;178729807;178729806	chr2:179594535;179594534;179594533
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: I
• RefSeq wild type transcript codon: ATT
• RefSeq wild type template codon: TAA
• Domain: Ig-45
• Domain position: 45
• Structural Position: 73
• Q(SASA): 0.3373
• 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
I/V	rs368897297	-0.311	None	N	0.118	0.121	None	gnomAD-2.1.1	1.43E-05	None	None	None	None	N	None	0	0	None	0	5.13E-05	None	0	None	0	2.34E-05	0
I/V	rs368897297	-0.311	None	N	0.118	0.121	None	gnomAD-3.1.2	1.97E-05	None	None	None	None	N	None	0	0	0	0	0	None	0	0	2.94E-05	2.06868E-04	0
I/V	rs368897297	-0.311	None	N	0.118	0.121	None	gnomAD-4.0.0	3.03638E-05	None	None	None	None	N	None	0	0	None	0	2.23005E-05	None	0	0	3.98394E-05	1.09786E-05	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
I/A	0.0963	likely_benign	0.0961	benign	-0.718	Destabilizing	None	N	0.156	neutral	None	None	None	None	N
I/C	0.4112	ambiguous	0.4113	ambiguous	-0.582	Destabilizing	0.245	N	0.225	neutral	None	None	None	None	N
I/D	0.1607	likely_benign	0.1554	benign	-0.207	Destabilizing	0.009	N	0.271	neutral	None	None	None	None	N
I/E	0.1484	likely_benign	0.1471	benign	-0.285	Destabilizing	None	N	0.205	neutral	None	None	None	None	N
I/F	0.0738	likely_benign	0.076	benign	-0.685	Destabilizing	0.017	N	0.221	neutral	N	0.482172151	None	None	N
I/G	0.1937	likely_benign	0.192	benign	-0.914	Destabilizing	0.004	N	0.295	neutral	None	None	None	None	N
I/H	0.1649	likely_benign	0.1701	benign	-0.29	Destabilizing	None	N	0.241	neutral	None	None	None	None	N
I/K	0.1079	likely_benign	0.1089	benign	-0.42	Destabilizing	0.009	N	0.259	neutral	None	None	None	None	N
I/L	0.0633	likely_benign	0.066	benign	-0.315	Destabilizing	None	N	0.119	neutral	N	0.4336102	None	None	N
I/M	0.0713	likely_benign	0.0711	benign	-0.344	Destabilizing	0.001	N	0.197	neutral	N	0.46358639	None	None	N
I/N	0.0746	likely_benign	0.0728	benign	-0.179	Destabilizing	0.014	N	0.3	neutral	N	0.354031908	None	None	N
I/P	0.1393	likely_benign	0.1445	benign	-0.416	Destabilizing	0.085	N	0.388	neutral	None	None	None	None	N
I/Q	0.1238	likely_benign	0.1248	benign	-0.383	Destabilizing	0.001	N	0.261	neutral	None	None	None	None	N
I/R	0.083	likely_benign	0.0844	benign	0.093	Stabilizing	0.009	N	0.375	neutral	None	None	None	None	N
I/S	0.0818	likely_benign	0.0789	benign	-0.648	Destabilizing	None	N	0.124	neutral	N	0.272181316	None	None	N
I/T	0.0876	likely_benign	0.083	benign	-0.612	Destabilizing	None	N	0.185	neutral	N	0.368828002	None	None	N
I/V	0.0657	likely_benign	0.0644	benign	-0.416	Destabilizing	None	N	0.118	neutral	N	0.425798793	None	None	N
I/W	0.3529	ambiguous	0.364	ambiguous	-0.733	Destabilizing	0.788	D	0.323	neutral	None	None	None	None	N
I/Y	0.1946	likely_benign	0.2081	benign	-0.469	Destabilizing	0.044	N	0.336	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.