TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	2605	8038;8039;8040	chr2:178773151;178773150;178773149	chr2:179637878;179637877;179637876
N2AB	2605	8038;8039;8040	chr2:178773151;178773150;178773149	chr2:179637878;179637877;179637876
N2A	2605	8038;8039;8040	chr2:178773151;178773150;178773149	chr2:179637878;179637877;179637876
N2B	2559	7900;7901;7902	chr2:178773151;178773150;178773149	chr2:179637878;179637877;179637876
Novex-1	2559	7900;7901;7902	chr2:178773151;178773150;178773149	chr2:179637878;179637877;179637876
Novex-2	2559	7900;7901;7902	chr2:178773151;178773150;178773149	chr2:179637878;179637877;179637876
Novex-3	2605	8038;8039;8040	chr2:178773151;178773150;178773149	chr2:179637878;179637877;179637876

Information

• RefSeq wild type amino acid: Y
• RefSeq wild type transcript codon: TAC
• RefSeq wild type template codon: ATG
• Domain: Ig-15
• Domain position: 73
• Structural Position: 157
• Q(SASA): 0.3425
• 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
Y/H	None	None	None	N	0.242	0.226	0.286848849266	gnomAD-4.0.0	1.20033E-06	None	None	None	None	N	None	6.33473E-05	0	None	0	0	None	0	0	0	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
Y/A	0.255	likely_benign	0.2524	benign	-2.429	Highly Destabilizing	None	N	0.473	neutral	None	None	None	None	N
Y/C	0.0913	likely_benign	0.0892	benign	-0.923	Destabilizing	0.828	D	0.591	neutral	N	0.494406951	None	None	N
Y/D	0.2366	likely_benign	0.2446	benign	-1.122	Destabilizing	0.055	N	0.633	neutral	N	0.39802377	None	None	N
Y/E	0.3904	ambiguous	0.3857	ambiguous	-1.02	Destabilizing	0.072	N	0.619	neutral	None	None	None	None	N
Y/F	0.0856	likely_benign	0.0857	benign	-1.005	Destabilizing	None	N	0.255	neutral	N	0.442620588	None	None	N
Y/G	0.3547	ambiguous	0.358	ambiguous	-2.771	Highly Destabilizing	0.016	N	0.554	neutral	None	None	None	None	N
Y/H	0.0876	likely_benign	0.0858	benign	-1.165	Destabilizing	None	N	0.242	neutral	N	0.442521436	None	None	N
Y/I	0.2314	likely_benign	0.2186	benign	-1.373	Destabilizing	0.038	N	0.613	neutral	None	None	None	None	N
Y/K	0.3047	likely_benign	0.296	benign	-1.042	Destabilizing	0.072	N	0.619	neutral	None	None	None	None	N
Y/L	0.2624	likely_benign	0.2584	benign	-1.373	Destabilizing	0.016	N	0.533	neutral	None	None	None	None	N
Y/M	0.3908	ambiguous	0.3827	ambiguous	-0.977	Destabilizing	0.356	N	0.587	neutral	None	None	None	None	N
Y/N	0.1295	likely_benign	0.1267	benign	-1.312	Destabilizing	0.055	N	0.639	neutral	N	0.476770284	None	None	N
Y/P	0.9391	likely_pathogenic	0.9504	pathogenic	-1.724	Destabilizing	0.356	N	0.635	neutral	None	None	None	None	N
Y/Q	0.23	likely_benign	0.2223	benign	-1.267	Destabilizing	0.356	N	0.629	neutral	None	None	None	None	N
Y/R	0.1778	likely_benign	0.17	benign	-0.611	Destabilizing	0.214	N	0.638	neutral	None	None	None	None	N
Y/S	0.1004	likely_benign	0.0998	benign	-1.904	Destabilizing	0.002	N	0.473	neutral	N	0.427949463	None	None	N
Y/T	0.1903	likely_benign	0.1863	benign	-1.703	Destabilizing	0.038	N	0.614	neutral	None	None	None	None	N
Y/V	0.1865	likely_benign	0.1815	benign	-1.724	Destabilizing	0.038	N	0.577	neutral	None	None	None	None	N
Y/W	0.357	ambiguous	0.3485	ambiguous	-0.513	Destabilizing	0.676	D	0.593	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.