TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9535	28828;28829;28830	chr2:178709716;178709715;178709714	chr2:179574443;179574442;179574441
N2AB	9218	27877;27878;27879	chr2:178709716;178709715;178709714	chr2:179574443;179574442;179574441
N2A	8291	25096;25097;25098	chr2:178709716;178709715;178709714	chr2:179574443;179574442;179574441
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-81
• Domain position: 43
• Structural Position: 59
• Q(SASA): 0.58
• 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	rs778021049	0.221	0.003	None	0.161	0.099	0.163833314356	gnomAD-2.1.1	1.2E-05	None	None	None	None	I	None	0	0	None	0	1.66908E-04	None	0	None	0	0	0
Q/K	rs778021049	0.221	0.003	None	0.161	0.099	0.163833314356	gnomAD-4.0.0	2.73669E-06	None	None	None	None	I	None	0	0	None	0	7.55744E-05	None	0	0	8.99442E-07	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	0.1313	likely_benign	0.1253	benign	-0.053	Destabilizing	0.004	N	0.261	neutral	None	None	None	None	I
Q/C	0.2446	likely_benign	0.2173	benign	-0.065	Destabilizing	0.497	N	0.379	neutral	None	None	None	None	I
Q/D	0.2105	likely_benign	0.1953	benign	-0.011	Destabilizing	0.018	N	0.175	neutral	None	None	None	None	I
Q/E	0.082	likely_benign	0.0786	benign	-0.044	Destabilizing	0.001	N	0.178	neutral	None	None	None	None	I
Q/F	0.2657	likely_benign	0.2261	benign	-0.392	Destabilizing	None	N	0.173	neutral	None	None	None	None	I
Q/G	0.1832	likely_benign	0.1684	benign	-0.196	Destabilizing	0.008	N	0.319	neutral	None	None	None	None	I
Q/H	0.0686	likely_benign	0.0647	benign	0.044	Stabilizing	None	N	0.09	neutral	None	None	None	None	I
Q/I	0.1911	likely_benign	0.1714	benign	0.226	Stabilizing	0.018	N	0.409	neutral	None	None	None	None	I
Q/K	0.0756	likely_benign	0.0776	benign	0.042	Stabilizing	0.003	N	0.161	neutral	None	None	None	None	I
Q/L	0.0774	likely_benign	0.0728	benign	0.226	Stabilizing	0.001	N	0.295	neutral	None	None	None	None	I
Q/M	0.2409	likely_benign	0.2181	benign	0.118	Stabilizing	0.497	N	0.233	neutral	None	None	None	None	I
Q/N	0.1189	likely_benign	0.1144	benign	-0.293	Destabilizing	0.004	N	0.169	neutral	None	None	None	None	I
Q/P	0.0901	likely_benign	0.0884	benign	0.159	Stabilizing	0.028	N	0.424	neutral	None	None	None	None	I
Q/R	0.0777	likely_benign	0.0772	benign	0.237	Stabilizing	None	N	0.098	neutral	None	None	None	None	I
Q/S	0.1293	likely_benign	0.1214	benign	-0.257	Destabilizing	0.008	N	0.159	neutral	None	None	None	None	I
Q/T	0.1228	likely_benign	0.1164	benign	-0.153	Destabilizing	0.018	N	0.319	neutral	None	None	None	None	I
Q/V	0.1471	likely_benign	0.1325	benign	0.159	Stabilizing	0.008	N	0.349	neutral	None	None	None	None	I
Q/W	0.2711	likely_benign	0.2342	benign	-0.466	Destabilizing	0.245	N	0.373	neutral	None	None	None	None	I
Q/Y	0.1361	likely_benign	0.1184	benign	-0.167	Destabilizing	None	N	0.139	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.