TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4724	14395;14396;14397	chr2:178738283;178738282;178738281	chr2:179603010;179603009;179603008
N2AB	4407	13444;13445;13446	chr2:178738283;178738282;178738281	chr2:179603010;179603009;179603008
N2A	3480	10663;10664;10665	chr2:178738283;178738282;178738281	chr2:179603010;179603009;179603008
N2B	4361	13306;13307;13308	chr2:178738283;178738282;178738281	chr2:179603010;179603009;179603008
Novex-1	4486	13681;13682;13683	chr2:178738283;178738282;178738281	chr2:179603010;179603009;179603008
Novex-2	4553	13882;13883;13884	chr2:178738283;178738282;178738281	chr2:179603010;179603009;179603008
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-30
• Domain position: 25
• Structural Position: 38
• Q(SASA): 0.511
• 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/R	rs1553934896	None	0.024	N	0.144	0.257	0.294206760003	gnomAD-4.0.0	1.36865E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.79906E-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	0.1758	likely_benign	0.1955	benign	-0.409	Destabilizing	0.007	N	0.176	neutral	None	None	None	None	N
Q/C	0.5216	ambiguous	0.581	pathogenic	0.027	Stabilizing	0.864	D	0.27	neutral	None	None	None	None	N
Q/D	0.2142	likely_benign	0.2752	benign	-0.061	Destabilizing	0.007	N	0.125	neutral	None	None	None	None	N
Q/E	0.0677	likely_benign	0.0717	benign	-0.024	Destabilizing	None	N	0.047	neutral	N	0.486476387	None	None	N
Q/F	0.501	ambiguous	0.5675	pathogenic	-0.288	Destabilizing	0.214	N	0.353	neutral	None	None	None	None	N
Q/G	0.2111	likely_benign	0.2576	benign	-0.691	Destabilizing	0.031	N	0.207	neutral	None	None	None	None	N
Q/H	0.1256	likely_benign	0.1412	benign	-0.473	Destabilizing	None	N	0.101	neutral	N	0.49237478	None	None	N
Q/I	0.3276	likely_benign	0.3551	ambiguous	0.274	Stabilizing	0.072	N	0.36	neutral	None	None	None	None	N
Q/K	0.1067	likely_benign	0.1215	benign	-0.155	Destabilizing	0.005	N	0.131	neutral	N	0.488877833	None	None	N
Q/L	0.118	likely_benign	0.1317	benign	0.274	Stabilizing	0.024	N	0.215	neutral	N	0.398710167	None	None	N
Q/M	0.3384	likely_benign	0.3537	ambiguous	0.48	Stabilizing	0.628	D	0.245	neutral	None	None	None	None	N
Q/N	0.1838	likely_benign	0.2178	benign	-0.634	Destabilizing	0.016	N	0.144	neutral	None	None	None	None	N
Q/P	0.2127	likely_benign	0.3099	benign	0.077	Stabilizing	0.106	N	0.263	neutral	N	0.49262601	None	None	N
Q/R	0.1072	likely_benign	0.1241	benign	-0.028	Destabilizing	0.024	N	0.144	neutral	N	0.490265779	None	None	N
Q/S	0.1829	likely_benign	0.1998	benign	-0.665	Destabilizing	0.007	N	0.146	neutral	None	None	None	None	N
Q/T	0.1704	likely_benign	0.1827	benign	-0.447	Destabilizing	None	N	0.117	neutral	None	None	None	None	N
Q/V	0.2188	likely_benign	0.2299	benign	0.077	Stabilizing	0.031	N	0.206	neutral	None	None	None	None	N
Q/W	0.396	ambiguous	0.4808	ambiguous	-0.195	Destabilizing	0.864	D	0.255	neutral	None	None	None	None	N
Q/Y	0.2862	likely_benign	0.3271	benign	0.025	Stabilizing	0.038	N	0.308	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.