TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	14070	42433;42434;42435	chr2:178634573;178634572;178634571	chr2:179499300;179499299;179499298
N2AB	12429	37510;37511;37512	chr2:178634573;178634572;178634571	chr2:179499300;179499299;179499298
N2A	11502	34729;34730;34731	chr2:178634573;178634572;178634571	chr2:179499300;179499299;179499298
N2B	5005	15238;15239;15240	chr2:178634573;178634572;178634571	chr2:179499300;179499299;179499298
Novex-1	5130	15613;15614;15615	chr2:178634573;178634572;178634571	chr2:179499300;179499299;179499298
Novex-2	5197	15814;15815;15816	chr2:178634573;178634572;178634571	chr2:179499300;179499299;179499298
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-91
• Domain position: 17
• Structural Position: 26
• Q(SASA): 0.4365
• 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	0.997	N	0.424	0.372	0.246773566709	gnomAD-4.0.0	1.59226E-06	None	None	None	None	N	None	0	2.28739E-05	None	0	0	None	0	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	0.3516	ambiguous	0.4043	ambiguous	-0.397	Destabilizing	0.997	D	0.471	neutral	None	None	None	None	N
Q/C	0.9617	likely_pathogenic	0.9703	pathogenic	0.133	Stabilizing	1.0	D	0.753	deleterious	None	None	None	None	N
Q/D	0.7907	likely_pathogenic	0.8415	pathogenic	-0.022	Destabilizing	0.997	D	0.48	neutral	None	None	None	None	N
Q/E	0.1482	likely_benign	0.1743	benign	0.002	Stabilizing	0.992	D	0.345	neutral	N	0.443785211	None	None	N
Q/F	0.9499	likely_pathogenic	0.9565	pathogenic	-0.314	Destabilizing	0.999	D	0.753	deleterious	None	None	None	None	N
Q/G	0.617	likely_pathogenic	0.6868	pathogenic	-0.67	Destabilizing	0.997	D	0.556	neutral	None	None	None	None	N
Q/H	0.7346	likely_pathogenic	0.792	pathogenic	-0.512	Destabilizing	0.999	D	0.593	neutral	N	0.505602222	None	None	N
Q/I	0.7262	likely_pathogenic	0.7475	pathogenic	0.258	Stabilizing	0.999	D	0.759	deleterious	None	None	None	None	N
Q/K	0.2415	likely_benign	0.3265	benign	-0.106	Destabilizing	0.997	D	0.424	neutral	N	0.445520629	None	None	N
Q/L	0.4344	ambiguous	0.5082	ambiguous	0.258	Stabilizing	0.997	D	0.556	neutral	N	0.433104957	None	None	N
Q/M	0.6081	likely_pathogenic	0.6323	pathogenic	0.572	Stabilizing	0.999	D	0.593	neutral	None	None	None	None	N
Q/N	0.6544	likely_pathogenic	0.7061	pathogenic	-0.495	Destabilizing	0.999	D	0.566	neutral	None	None	None	None	N
Q/P	0.2444	likely_benign	0.3554	ambiguous	0.071	Stabilizing	0.999	D	0.691	prob.neutral	N	0.443551738	None	None	N
Q/R	0.3355	likely_benign	0.4248	ambiguous	0.026	Stabilizing	0.997	D	0.464	neutral	N	0.437659854	None	None	N
Q/S	0.4739	ambiguous	0.5228	ambiguous	-0.555	Destabilizing	0.997	D	0.436	neutral	None	None	None	None	N
Q/T	0.4128	ambiguous	0.4667	ambiguous	-0.352	Destabilizing	0.999	D	0.621	neutral	None	None	None	None	N
Q/V	0.5666	likely_pathogenic	0.5917	pathogenic	0.071	Stabilizing	0.999	D	0.614	neutral	None	None	None	None	N
Q/W	0.942	likely_pathogenic	0.9587	pathogenic	-0.218	Destabilizing	1.0	D	0.735	prob.delet.	None	None	None	None	N
Q/Y	0.9176	likely_pathogenic	0.9402	pathogenic	-0.004	Destabilizing	0.999	D	0.691	prob.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.