TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7013	21262;21263;21264	chr2:178724338;178724337;178724336	chr2:179589065;179589064;179589063
N2AB	6696	20311;20312;20313	chr2:178724338;178724337;178724336	chr2:179589065;179589064;179589063
N2A	5769	17530;17531;17532	chr2:178724338;178724337;178724336	chr2:179589065;179589064;179589063
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: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-54
• Domain position: 66
• Structural Position: 148
• Q(SASA): 0.4416
• Predicted PPI site: I

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/K	rs1191869265	0.204	0.003	N	0.131	0.097	0.0482279557977	gnomAD-2.1.1	4.02E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	None	4.64E-05	0	0
Q/K	rs1191869265	0.204	0.003	N	0.131	0.097	0.0482279557977	gnomAD-4.0.0	1.59183E-06	None	None	None	None	I	None	0	0	None	0	0	None	1.88267E-05	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
Q/A	0.1047	likely_benign	0.0955	benign	-0.161	Destabilizing	None	N	0.099	neutral	None	None	None	None	I
Q/C	0.4961	ambiguous	0.4287	ambiguous	0.191	Stabilizing	0.497	N	0.32	neutral	None	None	None	None	I
Q/D	0.1573	likely_benign	0.1356	benign	-0.133	Destabilizing	0.004	N	0.133	neutral	None	None	None	None	I
Q/E	0.058	likely_benign	0.0543	benign	-0.181	Destabilizing	None	N	0.081	neutral	N	0.367295836	None	None	I
Q/F	0.4993	ambiguous	0.4517	ambiguous	-0.45	Destabilizing	0.044	N	0.433	neutral	None	None	None	None	I
Q/G	0.1025	likely_benign	0.0928	benign	-0.316	Destabilizing	None	N	0.099	neutral	None	None	None	None	I
Q/H	0.1579	likely_benign	0.1388	benign	-0.173	Destabilizing	0.196	N	0.192	neutral	N	0.457285909	None	None	I
Q/I	0.2783	likely_benign	0.255	benign	0.154	Stabilizing	0.009	N	0.269	neutral	None	None	None	None	I
Q/K	0.07	likely_benign	0.0676	benign	0.04	Stabilizing	0.003	N	0.131	neutral	N	0.439545511	None	None	I
Q/L	0.0959	likely_benign	0.089	benign	0.154	Stabilizing	None	N	0.112	neutral	N	0.450551938	None	None	I
Q/M	0.2574	likely_benign	0.2402	benign	0.35	Stabilizing	0.138	N	0.195	neutral	None	None	None	None	I
Q/N	0.1427	likely_benign	0.126	benign	-0.161	Destabilizing	None	N	0.095	neutral	None	None	None	None	I
Q/P	0.0737	likely_benign	0.0682	benign	0.075	Stabilizing	0.028	N	0.296	neutral	N	0.469137699	None	None	I
Q/R	0.084	likely_benign	0.0802	benign	0.256	Stabilizing	None	N	0.103	neutral	N	0.43692928	None	None	I
Q/S	0.108	likely_benign	0.1007	benign	-0.159	Destabilizing	None	N	0.07	neutral	None	None	None	None	I
Q/T	0.1137	likely_benign	0.1053	benign	-0.072	Destabilizing	0.004	N	0.172	neutral	None	None	None	None	I
Q/V	0.1667	likely_benign	0.1536	benign	0.075	Stabilizing	None	N	0.112	neutral	None	None	None	None	I
Q/W	0.3199	likely_benign	0.28	benign	-0.473	Destabilizing	0.788	D	0.292	neutral	None	None	None	None	I
Q/Y	0.3274	likely_benign	0.2923	benign	-0.208	Destabilizing	0.085	N	0.337	neutral	None	None	None	None	I

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.