TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5803	17632;17633;17634	chr2:178731359;178731358;178731357	chr2:179596086;179596085;179596084
N2AB	5486	16681;16682;16683	chr2:178731359;178731358;178731357	chr2:179596086;179596085;179596084
N2A	4559	13900;13901;13902	chr2:178731359;178731358;178731357	chr2:179596086;179596085;179596084
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: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-41
• Domain position: 74
• Structural Position: 157
• Q(SASA): 0.432
• 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
Q/H	rs914726368	None	None	D	0.215	0.234	0.272205846399	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	6.07533E-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
Q/A	0.4315	ambiguous	0.4262	ambiguous	-0.889	Destabilizing	0.055	N	0.399	neutral	None	None	None	None	N
Q/C	0.8207	likely_pathogenic	0.8289	pathogenic	-0.466	Destabilizing	0.958	D	0.537	neutral	None	None	None	None	N
Q/D	0.8147	likely_pathogenic	0.7983	pathogenic	-1.533	Destabilizing	None	N	0.228	neutral	None	None	None	None	N
Q/E	0.0966	likely_benign	0.0856	benign	-1.329	Destabilizing	None	N	0.159	neutral	N	0.491250207	None	None	N
Q/F	0.7992	likely_pathogenic	0.7927	pathogenic	-0.344	Destabilizing	0.667	D	0.575	neutral	None	None	None	None	N
Q/G	0.6981	likely_pathogenic	0.7028	pathogenic	-1.32	Destabilizing	0.104	N	0.479	neutral	None	None	None	None	N
Q/H	0.4106	ambiguous	0.4208	ambiguous	-1.057	Destabilizing	None	N	0.215	neutral	D	0.525576211	None	None	N
Q/I	0.3419	ambiguous	0.3243	benign	0.258	Stabilizing	0.497	N	0.598	neutral	None	None	None	None	N
Q/K	0.1968	likely_benign	0.2001	benign	-0.634	Destabilizing	0.042	N	0.405	neutral	N	0.495789235	None	None	N
Q/L	0.1958	likely_benign	0.196	benign	0.258	Stabilizing	0.175	N	0.519	neutral	N	0.491116921	None	None	N
Q/M	0.4016	ambiguous	0.3899	ambiguous	0.551	Stabilizing	0.859	D	0.53	neutral	None	None	None	None	N
Q/N	0.6515	likely_pathogenic	0.6239	pathogenic	-1.399	Destabilizing	0.104	N	0.409	neutral	None	None	None	None	N
Q/P	0.9681	likely_pathogenic	0.9702	pathogenic	-0.095	Destabilizing	0.301	N	0.531	neutral	N	0.506852139	None	None	N
Q/R	0.198	likely_benign	0.2131	benign	-0.691	Destabilizing	0.175	N	0.451	neutral	N	0.502832638	None	None	N
Q/S	0.5215	ambiguous	0.4963	ambiguous	-1.542	Destabilizing	0.055	N	0.357	neutral	None	None	None	None	N
Q/T	0.3315	likely_benign	0.3051	benign	-1.141	Destabilizing	0.004	N	0.282	neutral	None	None	None	None	N
Q/V	0.2221	likely_benign	0.219	benign	-0.095	Destabilizing	0.22	N	0.529	neutral	None	None	None	None	N
Q/W	0.7617	likely_pathogenic	0.7881	pathogenic	-0.309	Destabilizing	0.958	D	0.54	neutral	None	None	None	None	N
Q/Y	0.6393	likely_pathogenic	0.6384	pathogenic	-0.001	Destabilizing	0.124	N	0.569	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.