TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	32772	98539;98540;98541	chr2:178539751;178539750;178539749	chr2:179404478;179404477;179404476
N2AB	31131	93616;93617;93618	chr2:178539751;178539750;178539749	chr2:179404478;179404477;179404476
N2A	30204	90835;90836;90837	chr2:178539751;178539750;178539749	chr2:179404478;179404477;179404476
N2B	23707	71344;71345;71346	chr2:178539751;178539750;178539749	chr2:179404478;179404477;179404476
Novex-1	23832	71719;71720;71721	chr2:178539751;178539750;178539749	chr2:179404478;179404477;179404476
Novex-2	23899	71920;71921;71922	chr2:178539751;178539750;178539749	chr2:179404478;179404477;179404476
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-155
• Domain position: 65
• Structural Position: 153
• Q(SASA): 0.4265
• 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
T/I	rs1163729764	0.099	0.002	N	0.32	0.124	0.331876078066	gnomAD-2.1.1	1.21E-05	None	None	None	None	N	None	0	5.8E-05	None	0	5.57E-05	None	0	None	0	0	0
T/I	rs1163729764	0.099	0.002	N	0.32	0.124	0.331876078066	gnomAD-4.0.0	4.77359E-06	None	None	None	None	N	None	0	4.57331E-05	None	0	2.77331E-05	None	0	0	0	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
T/A	0.11	likely_benign	0.1303	benign	-1.144	Destabilizing	0.055	N	0.537	neutral	N	0.516953941	None	None	N
T/C	0.3756	ambiguous	0.4462	ambiguous	-0.759	Destabilizing	0.968	D	0.652	neutral	None	None	None	None	N
T/D	0.5185	ambiguous	0.6032	pathogenic	-0.668	Destabilizing	0.157	N	0.585	neutral	None	None	None	None	N
T/E	0.4381	ambiguous	0.5323	ambiguous	-0.575	Destabilizing	0.272	N	0.582	neutral	None	None	None	None	N
T/F	0.2786	likely_benign	0.3519	ambiguous	-0.962	Destabilizing	0.567	D	0.695	prob.neutral	None	None	None	None	N
T/G	0.3948	ambiguous	0.4546	ambiguous	-1.488	Destabilizing	0.157	N	0.579	neutral	None	None	None	None	N
T/H	0.3057	likely_benign	0.3834	ambiguous	-1.627	Destabilizing	0.832	D	0.695	prob.neutral	None	None	None	None	N
T/I	0.1248	likely_benign	0.1499	benign	-0.284	Destabilizing	0.002	N	0.32	neutral	N	0.499618974	None	None	N
T/K	0.2588	likely_benign	0.3318	benign	-0.735	Destabilizing	0.157	N	0.584	neutral	None	None	None	None	N
T/L	0.1051	likely_benign	0.127	benign	-0.284	Destabilizing	0.06	N	0.565	neutral	None	None	None	None	N
T/M	0.1024	likely_benign	0.1161	benign	-0.059	Destabilizing	0.832	D	0.644	neutral	None	None	None	None	N
T/N	0.1461	likely_benign	0.173	benign	-0.99	Destabilizing	0.002	N	0.249	neutral	N	0.499792332	None	None	N
T/P	0.281	likely_benign	0.3232	benign	-0.538	Destabilizing	0.667	D	0.645	neutral	N	0.510393328	None	None	N
T/Q	0.2791	likely_benign	0.3451	ambiguous	-1.01	Destabilizing	0.567	D	0.655	neutral	None	None	None	None	N
T/R	0.2052	likely_benign	0.2684	benign	-0.658	Destabilizing	0.567	D	0.644	neutral	None	None	None	None	N
T/S	0.1569	likely_benign	0.1875	benign	-1.318	Destabilizing	0.004	N	0.279	neutral	N	0.502061847	None	None	N
T/V	0.1211	likely_benign	0.1398	benign	-0.538	Destabilizing	0.06	N	0.523	neutral	None	None	None	None	N
T/W	0.5872	likely_pathogenic	0.6771	pathogenic	-0.916	Destabilizing	0.968	D	0.698	prob.neutral	None	None	None	None	N
T/Y	0.2716	likely_benign	0.3288	benign	-0.651	Destabilizing	0.726	D	0.7	prob.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.