TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8045	24358;24359;24360	chr2:178719257;178719256;178719255	chr2:179583984;179583983;179583982
N2AB	7728	23407;23408;23409	chr2:178719257;178719256;178719255	chr2:179583984;179583983;179583982
N2A	6801	20626;20627;20628	chr2:178719257;178719256;178719255	chr2:179583984;179583983;179583982
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: S
• RefSeq wild type transcript codon: AGC
• RefSeq wild type template codon: TCG
• Domain: Ig-65
• Domain position: 61
• Structural Position: 141
• Q(SASA): 0.3463
• 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
S/G	None	None	0.042	N	0.244	0.145	0.181679512989	gnomAD-4.0.0	2.05262E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.69844E-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
S/A	0.0902	likely_benign	0.0872	benign	-0.735	Destabilizing	0.055	N	0.274	neutral	None	None	None	None	N
S/C	0.1194	likely_benign	0.1031	benign	-0.555	Destabilizing	0.946	D	0.39	neutral	N	0.506042445	None	None	N
S/D	0.1333	likely_benign	0.1591	benign	-0.598	Destabilizing	0.055	N	0.243	neutral	None	None	None	None	N
S/E	0.231	likely_benign	0.253	benign	-0.611	Destabilizing	0.004	N	0.092	neutral	None	None	None	None	N
S/F	0.1457	likely_benign	0.1379	benign	-1.077	Destabilizing	0.667	D	0.465	neutral	None	None	None	None	N
S/G	0.0801	likely_benign	0.0803	benign	-0.954	Destabilizing	0.042	N	0.244	neutral	N	0.487177721	None	None	N
S/H	0.1145	likely_benign	0.1313	benign	-1.496	Destabilizing	0.002	N	0.219	neutral	None	None	None	None	N
S/I	0.1061	likely_benign	0.1015	benign	-0.261	Destabilizing	0.602	D	0.473	neutral	D	0.526827005	None	None	N
S/K	0.2272	likely_benign	0.253	benign	-0.665	Destabilizing	0.001	N	0.095	neutral	None	None	None	None	N
S/L	0.1074	likely_benign	0.0992	benign	-0.261	Destabilizing	0.22	N	0.469	neutral	None	None	None	None	N
S/M	0.1783	likely_benign	0.172	benign	0.174	Stabilizing	0.859	D	0.396	neutral	None	None	None	None	N
S/N	0.0613	likely_benign	0.0685	benign	-0.671	Destabilizing	None	N	0.079	neutral	N	0.469317497	None	None	N
S/P	0.1805	likely_benign	0.1564	benign	-0.388	Destabilizing	0.001	N	0.197	neutral	None	None	None	None	N
S/Q	0.2083	likely_benign	0.2248	benign	-0.916	Destabilizing	0.124	N	0.258	neutral	None	None	None	None	N
S/R	0.1849	likely_benign	0.1976	benign	-0.512	Destabilizing	0.096	N	0.397	neutral	N	0.473376522	None	None	N
S/T	0.0764	likely_benign	0.0763	benign	-0.676	Destabilizing	0.081	N	0.273	neutral	N	0.504968866	None	None	N
S/V	0.1389	likely_benign	0.1344	benign	-0.388	Destabilizing	0.22	N	0.481	neutral	None	None	None	None	N
S/W	0.2491	likely_benign	0.227	benign	-1.043	Destabilizing	0.958	D	0.495	neutral	None	None	None	None	N
S/Y	0.1049	likely_benign	0.1059	benign	-0.759	Destabilizing	0.497	N	0.468	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.