TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	35176	105751;105752;105753	chr2:178531089;178531088;178531087	chr2:179395816;179395815;179395814
N2AB	33535	100828;100829;100830	chr2:178531089;178531088;178531087	chr2:179395816;179395815;179395814
N2A	32608	98047;98048;98049	chr2:178531089;178531088;178531087	chr2:179395816;179395815;179395814
N2B	26111	78556;78557;78558	chr2:178531089;178531088;178531087	chr2:179395816;179395815;179395814
Novex-1	26236	78931;78932;78933	chr2:178531089;178531088;178531087	chr2:179395816;179395815;179395814
Novex-2	26303	79132;79133;79134	chr2:178531089;178531088;178531087	chr2:179395816;179395815;179395814
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-164
• Domain position: 48
• Structural Position: 122
• Q(SASA): 0.5593
• 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/L	None	None	None	N	0.213	0.198	0.355450299083	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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	0.2513	likely_benign	0.2617	benign	-0.42	Destabilizing	0.012	N	0.315	neutral	None	None	None	None	N
Q/C	0.627	likely_pathogenic	0.6477	pathogenic	0.043	Stabilizing	0.712	D	0.311	neutral	None	None	None	None	N
Q/D	0.4087	ambiguous	0.4295	ambiguous	-0.654	Destabilizing	0.029	N	0.176	neutral	None	None	None	None	N
Q/E	0.0951	likely_benign	0.0995	benign	-0.637	Destabilizing	0.005	N	0.253	neutral	N	0.479609061	None	None	N
Q/F	0.6353	likely_pathogenic	0.6764	pathogenic	-0.686	Destabilizing	0.096	N	0.376	neutral	None	None	None	None	N
Q/G	0.3507	ambiguous	0.3602	ambiguous	-0.649	Destabilizing	0.012	N	0.345	neutral	None	None	None	None	N
Q/H	0.1642	likely_benign	0.1677	benign	-0.913	Destabilizing	None	N	0.163	neutral	N	0.445344559	None	None	N
Q/I	0.3473	ambiguous	0.3862	ambiguous	0.115	Stabilizing	0.015	N	0.361	neutral	None	None	None	None	N
Q/K	0.088	likely_benign	0.0886	benign	0.043	Stabilizing	0.005	N	0.261	neutral	N	0.469237352	None	None	N
Q/L	0.1583	likely_benign	0.173	benign	0.115	Stabilizing	None	N	0.213	neutral	N	0.493847795	None	None	N
Q/M	0.3893	ambiguous	0.4125	ambiguous	0.688	Stabilizing	0.096	N	0.293	neutral	None	None	None	None	N
Q/N	0.2957	likely_benign	0.3171	benign	-0.386	Destabilizing	0.015	N	0.171	neutral	None	None	None	None	N
Q/P	0.5217	ambiguous	0.5996	pathogenic	-0.035	Destabilizing	0.044	N	0.341	neutral	N	0.492342282	None	None	N
Q/R	0.0891	likely_benign	0.0848	benign	0.099	Stabilizing	None	N	0.119	neutral	N	0.405362019	None	None	N
Q/S	0.276	likely_benign	0.2837	benign	-0.421	Destabilizing	0.006	N	0.208	neutral	None	None	None	None	N
Q/T	0.1934	likely_benign	0.203	benign	-0.241	Destabilizing	None	N	0.187	neutral	None	None	None	None	N
Q/V	0.2554	likely_benign	0.2672	benign	-0.035	Destabilizing	0.006	N	0.347	neutral	None	None	None	None	N
Q/W	0.4788	ambiguous	0.4746	ambiguous	-0.617	Destabilizing	0.712	D	0.322	neutral	None	None	None	None	N
Q/Y	0.4383	ambiguous	0.4575	ambiguous	-0.299	Destabilizing	0.015	N	0.381	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.