TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	24702	74329;74330;74331	chr2:178572028;178572027;178572026	chr2:179436755;179436754;179436753
N2AB	23061	69406;69407;69408	chr2:178572028;178572027;178572026	chr2:179436755;179436754;179436753
N2A	22134	66625;66626;66627	chr2:178572028;178572027;178572026	chr2:179436755;179436754;179436753
N2B	15637	47134;47135;47136	chr2:178572028;178572027;178572026	chr2:179436755;179436754;179436753
Novex-1	15762	47509;47510;47511	chr2:178572028;178572027;178572026	chr2:179436755;179436754;179436753
Novex-2	15829	47710;47711;47712	chr2:178572028;178572027;178572026	chr2:179436755;179436754;179436753
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: Fn3-67
• Domain position: 87
• Structural Position: 122
• Q(SASA): 0.2371
• 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
Q/K	None	None	0.393	N	0.247	0.157	0.173771789658	gnomAD-4.0.0	6.8445E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99622E-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	0.1576	likely_benign	0.1665	benign	-0.754	Destabilizing	0.014	N	0.213	neutral	None	None	None	None	N
Q/C	0.6353	likely_pathogenic	0.6404	pathogenic	-0.088	Destabilizing	0.984	D	0.41	neutral	None	None	None	None	N
Q/D	0.4538	ambiguous	0.48	ambiguous	-0.107	Destabilizing	0.611	D	0.272	neutral	None	None	None	None	N
Q/E	0.0884	likely_benign	0.0958	benign	0.015	Stabilizing	0.403	N	0.217	neutral	N	0.372307372	None	None	N
Q/F	0.5961	likely_pathogenic	0.5899	pathogenic	-0.413	Destabilizing	0.834	D	0.467	neutral	None	None	None	None	N
Q/G	0.3021	likely_benign	0.3121	benign	-1.112	Destabilizing	0.003	N	0.251	neutral	None	None	None	None	N
Q/H	0.2503	likely_benign	0.2485	benign	-0.682	Destabilizing	0.944	D	0.473	neutral	N	0.491676203	None	None	N
Q/I	0.2294	likely_benign	0.2257	benign	0.165	Stabilizing	0.339	N	0.561	neutral	None	None	None	None	N
Q/K	0.1239	likely_benign	0.1331	benign	-0.119	Destabilizing	0.393	N	0.247	neutral	N	0.451040301	None	None	N
Q/L	0.0927	likely_benign	0.0941	benign	0.165	Stabilizing	0.138	N	0.31	neutral	N	0.463220165	None	None	N
Q/M	0.2424	likely_benign	0.2427	benign	0.414	Stabilizing	0.879	D	0.409	neutral	None	None	None	None	N
Q/N	0.291	likely_benign	0.2989	benign	-0.736	Destabilizing	0.611	D	0.311	neutral	None	None	None	None	N
Q/P	0.0805	likely_benign	0.0788	benign	-0.111	Destabilizing	0.001	N	0.217	neutral	N	0.381660361	None	None	N
Q/R	0.1702	likely_benign	0.1736	benign	-0.058	Destabilizing	0.507	D	0.318	neutral	N	0.459371783	None	None	N
Q/S	0.2125	likely_benign	0.2193	benign	-0.932	Destabilizing	0.347	N	0.177	neutral	None	None	None	None	N
Q/T	0.1662	likely_benign	0.1724	benign	-0.601	Destabilizing	0.04	N	0.353	neutral	None	None	None	None	N
Q/V	0.151	likely_benign	0.1515	benign	-0.111	Destabilizing	None	N	0.295	neutral	None	None	None	None	N
Q/W	0.6121	likely_pathogenic	0.6004	pathogenic	-0.235	Destabilizing	0.997	D	0.483	neutral	None	None	None	None	N
Q/Y	0.4525	ambiguous	0.4483	ambiguous	-0.011	Destabilizing	0.911	D	0.542	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.