TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30950	93073;93074;93075	chr2:178548778;178548777;178548776	chr2:179413505;179413504;179413503
N2AB	29309	88150;88151;88152	chr2:178548778;178548777;178548776	chr2:179413505;179413504;179413503
N2A	28382	85369;85370;85371	chr2:178548778;178548777;178548776	chr2:179413505;179413504;179413503
N2B	21885	65878;65879;65880	chr2:178548778;178548777;178548776	chr2:179413505;179413504;179413503
Novex-1	22010	66253;66254;66255	chr2:178548778;178548777;178548776	chr2:179413505;179413504;179413503
Novex-2	22077	66454;66455;66456	chr2:178548778;178548777;178548776	chr2:179413505;179413504;179413503
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-150
• Domain position: 24
• Structural Position: 38
• Q(SASA): 0.6958
• 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/H	None	None	0.295	N	0.199	0.081	0.216624796971	gnomAD-4.0.0	7.20193E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	7.87501E-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	0.17	likely_benign	0.1547	benign	-0.077	Destabilizing	0.007	N	0.192	neutral	None	None	None	None	I
Q/C	0.3687	ambiguous	0.3668	ambiguous	-0.339	Destabilizing	0.628	D	0.265	neutral	None	None	None	None	I
Q/D	0.4112	ambiguous	0.3955	ambiguous	-0.244	Destabilizing	0.031	N	0.181	neutral	None	None	None	None	I
Q/E	0.1017	likely_benign	0.0962	benign	-0.292	Destabilizing	0.005	N	0.145	neutral	N	0.431815114	None	None	I
Q/F	0.5502	ambiguous	0.5496	ambiguous	-0.538	Destabilizing	0.356	N	0.335	neutral	None	None	None	None	I
Q/G	0.2302	likely_benign	0.2142	benign	-0.166	Destabilizing	0.016	N	0.263	neutral	None	None	None	None	I
Q/H	0.118	likely_benign	0.1226	benign	0.115	Stabilizing	0.295	N	0.199	neutral	N	0.484593594	None	None	I
Q/I	0.3163	likely_benign	0.304	benign	0.059	Stabilizing	0.136	N	0.381	neutral	None	None	None	None	I
Q/K	0.0656	likely_benign	0.0692	benign	-0.081	Destabilizing	None	N	0.105	neutral	N	0.385986824	None	None	I
Q/L	0.1231	likely_benign	0.1216	benign	0.059	Stabilizing	0.024	N	0.235	neutral	N	0.465834474	None	None	I
Q/M	0.3113	likely_benign	0.3041	benign	-0.132	Destabilizing	0.628	D	0.21	neutral	None	None	None	None	I
Q/N	0.2568	likely_benign	0.2451	benign	-0.463	Destabilizing	0.016	N	0.185	neutral	None	None	None	None	I
Q/P	0.5276	ambiguous	0.4907	ambiguous	0.036	Stabilizing	0.106	N	0.328	neutral	D	0.532982186	None	None	I
Q/R	0.0659	likely_benign	0.0694	benign	0.152	Stabilizing	None	N	0.097	neutral	N	0.421600908	None	None	I
Q/S	0.1772	likely_benign	0.1587	benign	-0.394	Destabilizing	None	N	0.098	neutral	None	None	None	None	I
Q/T	0.1372	likely_benign	0.1279	benign	-0.325	Destabilizing	0.016	N	0.253	neutral	None	None	None	None	I
Q/V	0.2079	likely_benign	0.1984	benign	0.036	Stabilizing	0.031	N	0.326	neutral	None	None	None	None	I
Q/W	0.406	ambiguous	0.4094	ambiguous	-0.647	Destabilizing	0.864	D	0.263	neutral	None	None	None	None	I
Q/Y	0.3417	ambiguous	0.3489	ambiguous	-0.336	Destabilizing	0.356	N	0.325	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.