TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22507	67744;67745;67746	chr2:178579678;178579677;178579676	chr2:179444405;179444404;179444403
N2AB	20866	62821;62822;62823	chr2:178579678;178579677;178579676	chr2:179444405;179444404;179444403
N2A	19939	60040;60041;60042	chr2:178579678;178579677;178579676	chr2:179444405;179444404;179444403
N2B	13442	40549;40550;40551	chr2:178579678;178579677;178579676	chr2:179444405;179444404;179444403
Novex-1	13567	40924;40925;40926	chr2:178579678;178579677;178579676	chr2:179444405;179444404;179444403
Novex-2	13634	41125;41126;41127	chr2:178579678;178579677;178579676	chr2:179444405;179444404;179444403
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: Fn3-51
• Domain position: 57
• Structural Position: 90
• Q(SASA): 0.3672
• 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	None	None	None	N	0.201	0.132	0.176091768786	gnomAD-4.0.0	1.5922E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86015E-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
Q/A	0.2052	likely_benign	0.2118	benign	-0.678	Destabilizing	0.055	N	0.406	neutral	None	None	None	None	N
Q/C	0.4917	ambiguous	0.5523	ambiguous	-0.099	Destabilizing	0.958	D	0.549	neutral	None	None	None	None	N
Q/D	0.2572	likely_benign	0.293	benign	0.212	Stabilizing	0.104	N	0.326	neutral	None	None	None	None	N
Q/E	0.0691	likely_benign	0.0726	benign	0.302	Stabilizing	0.042	N	0.391	neutral	N	0.43640171	None	None	N
Q/F	0.5248	ambiguous	0.6013	pathogenic	-0.41	Destabilizing	0.497	N	0.561	neutral	None	None	None	None	N
Q/G	0.252	likely_benign	0.2888	benign	-0.998	Destabilizing	0.104	N	0.425	neutral	None	None	None	None	N
Q/H	0.1373	likely_benign	0.1643	benign	-0.614	Destabilizing	None	N	0.201	neutral	N	0.466783332	None	None	N
Q/I	0.2929	likely_benign	0.3232	benign	0.129	Stabilizing	0.667	D	0.575	neutral	None	None	None	None	N
Q/K	0.1257	likely_benign	0.1457	benign	-0.012	Destabilizing	0.081	N	0.377	neutral	N	0.422011047	None	None	N
Q/L	0.1241	likely_benign	0.1373	benign	0.129	Stabilizing	0.175	N	0.439	neutral	N	0.517153437	None	None	N
Q/M	0.3157	likely_benign	0.323	benign	0.361	Stabilizing	0.859	D	0.495	neutral	None	None	None	None	N
Q/N	0.191	likely_benign	0.2242	benign	-0.58	Destabilizing	0.055	N	0.326	neutral	None	None	None	None	N
Q/P	0.3718	ambiguous	0.5007	ambiguous	-0.11	Destabilizing	0.301	N	0.501	neutral	N	0.5023387	None	None	N
Q/R	0.1134	likely_benign	0.1372	benign	0.054	Stabilizing	0.175	N	0.329	neutral	N	0.456256907	None	None	N
Q/S	0.1617	likely_benign	0.1712	benign	-0.776	Destabilizing	0.005	N	0.195	neutral	None	None	None	None	N
Q/T	0.1421	likely_benign	0.1415	benign	-0.481	Destabilizing	0.055	N	0.377	neutral	None	None	None	None	N
Q/V	0.197	likely_benign	0.2057	benign	-0.11	Destabilizing	0.364	N	0.497	neutral	None	None	None	None	N
Q/W	0.3842	ambiguous	0.4921	ambiguous	-0.207	Destabilizing	0.958	D	0.552	neutral	None	None	None	None	N
Q/Y	0.3143	likely_benign	0.374	ambiguous	-0.001	Destabilizing	0.124	N	0.511	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.