TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19434	58525;58526;58527	chr2:178594093;178594092;178594091	chr2:179458820;179458819;179458818
N2AB	17793	53602;53603;53604	chr2:178594093;178594092;178594091	chr2:179458820;179458819;179458818
N2A	16866	50821;50822;50823	chr2:178594093;178594092;178594091	chr2:179458820;179458819;179458818
N2B	10369	31330;31331;31332	chr2:178594093;178594092;178594091	chr2:179458820;179458819;179458818
Novex-1	10494	31705;31706;31707	chr2:178594093;178594092;178594091	chr2:179458820;179458819;179458818
Novex-2	10561	31906;31907;31908	chr2:178594093;178594092;178594091	chr2:179458820;179458819;179458818
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-118
• Domain position: 44
• Structural Position: 122
• Q(SASA): 0.3407
• 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
H/D	rs770789921	-1.006	0.003	N	0.307	0.102	0.287603790349	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	2.9E-05	None	0	0	None	0	None	0	0	0
H/D	rs770789921	-1.006	0.003	N	0.307	0.102	0.287603790349	gnomAD-4.0.0	4.77572E-06	None	None	None	None	N	None	0	4.57582E-05	None	0	0	None	0	0	2.85919E-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
H/A	0.1395	likely_benign	0.1472	benign	-0.686	Destabilizing	None	N	0.209	neutral	None	None	None	None	N
H/C	0.0948	likely_benign	0.0935	benign	0.092	Stabilizing	0.497	N	0.479	neutral	None	None	None	None	N
H/D	0.1559	likely_benign	0.1676	benign	-0.445	Destabilizing	0.003	N	0.307	neutral	N	0.462658096	None	None	N
H/E	0.1591	likely_benign	0.1667	benign	-0.367	Destabilizing	None	N	0.097	neutral	None	None	None	None	N
H/F	0.1954	likely_benign	0.2218	benign	0.211	Stabilizing	None	N	0.195	neutral	None	None	None	None	N
H/G	0.1853	likely_benign	0.2012	benign	-1.026	Destabilizing	None	N	0.217	neutral	None	None	None	None	N
H/I	0.1271	likely_benign	0.1407	benign	0.241	Stabilizing	0.044	N	0.547	neutral	None	None	None	None	N
H/K	0.0991	likely_benign	0.1011	benign	-0.545	Destabilizing	None	N	0.145	neutral	None	None	None	None	N
H/L	0.0749	likely_benign	0.0774	benign	0.241	Stabilizing	0.003	N	0.387	neutral	N	0.454038613	None	None	N
H/M	0.2306	likely_benign	0.2554	benign	0.168	Stabilizing	0.245	N	0.474	neutral	None	None	None	None	N
H/N	0.0788	likely_benign	0.0918	benign	-0.458	Destabilizing	None	N	0.111	neutral	N	0.418077813	None	None	N
H/P	0.5155	ambiguous	0.5122	ambiguous	-0.047	Destabilizing	0.028	N	0.484	neutral	N	0.489922056	None	None	N
H/Q	0.086	likely_benign	0.0982	benign	-0.25	Destabilizing	None	N	0.133	neutral	N	0.405591305	None	None	N
H/R	0.0532	likely_benign	0.0531	benign	-0.964	Destabilizing	0.007	N	0.278	neutral	N	0.426697296	None	None	N
H/S	0.1204	likely_benign	0.1316	benign	-0.517	Destabilizing	0.002	N	0.301	neutral	None	None	None	None	N
H/T	0.1058	likely_benign	0.1169	benign	-0.346	Destabilizing	0.008	N	0.367	neutral	None	None	None	None	N
H/V	0.1064	likely_benign	0.113	benign	-0.047	Destabilizing	0.018	N	0.395	neutral	None	None	None	None	N
H/W	0.2411	likely_benign	0.2422	benign	0.36	Stabilizing	0.497	N	0.441	neutral	None	None	None	None	N
H/Y	0.0885	likely_benign	0.0966	benign	0.589	Stabilizing	0.007	N	0.345	neutral	N	0.482284007	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.