TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22450	67573;67574;67575	chr2:178579939;178579848;178579847	chr2:179444666;179444575;179444574
N2AB	20809	62650;62651;62652	chr2:178579939;178579848;178579847	chr2:179444666;179444575;179444574
N2A	19882	59869;59870;59871	chr2:178579939;178579848;178579847	chr2:179444666;179444575;179444574
N2B	13385	40378;40379;40380	chr2:178579939;178579848;178579847	chr2:179444666;179444575;179444574
Novex-1	13510	40753;40754;40755	chr2:178579939;178579848;178579847	chr2:179444666;179444575;179444574
Novex-2	13577	40954;40955;40956	chr2:178579939;178579848;178579847	chr2:179444666;179444575;179444574
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: Fn3-50
• Domain position: 97
• Structural Position: 132
• Q(SASA): 1.2889
• 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	0.004	N	0.227	0.037	0.0954503805726	gnomAD-4.0.0	6.84565E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99721E-07	0	0
Q/P	None	None	0.013	N	0.373	None	0.220303561663	gnomAD-4.0.0	1.59425E-06	None	None	None	None	N	None	0	0	None	0	2.77654E-05	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	0.2433	likely_benign	0.2422	benign	-0.163	Destabilizing	0.002	N	0.368	neutral	None	None	None	None	N
Q/C	0.7611	likely_pathogenic	0.7305	pathogenic	0.091	Stabilizing	0.633	D	0.233	neutral	None	None	None	None	N
Q/D	0.3811	ambiguous	0.3328	benign	-0.074	Destabilizing	None	N	0.089	neutral	None	None	None	None	N
Q/E	0.0592	likely_benign	0.0573	benign	-0.133	Destabilizing	None	N	0.093	neutral	N	0.367594986	None	None	N
Q/F	0.8168	likely_pathogenic	0.8131	pathogenic	-0.561	Destabilizing	0.314	N	0.446	neutral	None	None	None	None	N
Q/G	0.2949	likely_benign	0.2806	benign	-0.274	Destabilizing	0.004	N	0.397	neutral	None	None	None	None	N
Q/H	0.3902	ambiguous	0.3588	ambiguous	-0.216	Destabilizing	0.102	N	0.362	neutral	N	0.509029812	None	None	N
Q/I	0.5428	ambiguous	0.5615	ambiguous	0.033	Stabilizing	0.041	N	0.483	neutral	None	None	None	None	N
Q/K	0.1889	likely_benign	0.1742	benign	0.104	Stabilizing	0.004	N	0.227	neutral	N	0.458139632	None	None	N
Q/L	0.2402	likely_benign	0.2333	benign	0.033	Stabilizing	0.007	N	0.349	neutral	N	0.49704195	None	None	N
Q/M	0.3942	ambiguous	0.3917	ambiguous	0.245	Stabilizing	0.314	N	0.353	neutral	None	None	None	None	N
Q/N	0.334	likely_benign	0.313	benign	-0.159	Destabilizing	0.004	N	0.248	neutral	None	None	None	None	N
Q/P	0.7266	likely_pathogenic	0.7445	pathogenic	-0.008	Destabilizing	0.013	N	0.373	neutral	N	0.497908742	None	None	N
Q/R	0.2174	likely_benign	0.2009	benign	0.238	Stabilizing	0.003	N	0.301	neutral	N	0.478706905	None	None	N
Q/S	0.2474	likely_benign	0.2315	benign	-0.134	Destabilizing	0.002	N	0.231	neutral	None	None	None	None	N
Q/T	0.2813	likely_benign	0.2584	benign	-0.062	Destabilizing	0.009	N	0.377	neutral	None	None	None	None	N
Q/V	0.3097	likely_benign	0.3083	benign	-0.008	Destabilizing	0.009	N	0.345	neutral	None	None	None	None	N
Q/W	0.8431	likely_pathogenic	0.8219	pathogenic	-0.599	Destabilizing	0.633	D	0.272	neutral	None	None	None	None	N
Q/Y	0.6406	likely_pathogenic	0.6238	pathogenic	-0.314	Destabilizing	0.115	N	0.389	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.