TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6583	19972;19973;19974	chr2:178727831;178727830;178727829	chr2:179592558;179592557;179592556
N2AB	6266	19021;19022;19023	chr2:178727831;178727830;178727829	chr2:179592558;179592557;179592556
N2A	5339	16240;16241;16242	chr2:178727831;178727830;178727829	chr2:179592558;179592557;179592556
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
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-50
• Domain position: 10
• Structural Position: 13
• Q(SASA): 0.3162
• 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	rs1370326075	None	0.135	N	0.205	0.219	0.218112801441	gnomAD-4.0.0	1.61836E-06	None	None	None	None	N	None	0	0	None	0	2.78458E-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	0.3753	ambiguous	0.4419	ambiguous	-0.632	Destabilizing	0.993	D	0.483	neutral	None	None	None	None	N
Q/C	0.7544	likely_pathogenic	0.8318	pathogenic	-0.008	Destabilizing	1.0	D	0.685	prob.neutral	None	None	None	None	N
Q/D	0.6646	likely_pathogenic	0.7168	pathogenic	-0.123	Destabilizing	0.993	D	0.402	neutral	None	None	None	None	N
Q/E	0.1122	likely_benign	0.1175	benign	-0.009	Destabilizing	0.953	D	0.397	neutral	N	0.504063754	None	None	N
Q/F	0.768	likely_pathogenic	0.8142	pathogenic	-0.293	Destabilizing	0.999	D	0.68	prob.neutral	None	None	None	None	N
Q/G	0.4407	ambiguous	0.5247	ambiguous	-0.99	Destabilizing	0.993	D	0.508	neutral	None	None	None	None	N
Q/H	0.3831	ambiguous	0.4564	ambiguous	-0.626	Destabilizing	0.999	D	0.436	neutral	N	0.504317244	None	None	N
Q/I	0.3719	ambiguous	0.3926	ambiguous	0.286	Stabilizing	0.999	D	0.67	neutral	None	None	None	None	N
Q/K	0.1276	likely_benign	0.1465	benign	-0.158	Destabilizing	0.911	D	0.458	neutral	N	0.501869845	None	None	N
Q/L	0.1611	likely_benign	0.1779	benign	0.286	Stabilizing	0.99	D	0.508	neutral	N	0.520452819	None	None	N
Q/M	0.4212	ambiguous	0.4651	ambiguous	0.517	Stabilizing	0.999	D	0.44	neutral	None	None	None	None	N
Q/N	0.5555	ambiguous	0.5905	pathogenic	-0.733	Destabilizing	0.993	D	0.411	neutral	None	None	None	None	N
Q/P	0.4496	ambiguous	0.5949	pathogenic	0.011	Stabilizing	0.999	D	0.562	neutral	N	0.511065193	None	None	N
Q/R	0.139	likely_benign	0.1709	benign	-0.128	Destabilizing	0.135	N	0.205	neutral	N	0.515145787	None	None	N
Q/S	0.4696	ambiguous	0.5306	ambiguous	-0.878	Destabilizing	0.993	D	0.387	neutral	None	None	None	None	N
Q/T	0.3347	likely_benign	0.3849	ambiguous	-0.556	Destabilizing	0.993	D	0.471	neutral	None	None	None	None	N
Q/V	0.2621	likely_benign	0.2879	benign	0.011	Stabilizing	0.998	D	0.541	neutral	None	None	None	None	N
Q/W	0.6581	likely_pathogenic	0.7584	pathogenic	-0.161	Destabilizing	1.0	D	0.681	prob.neutral	None	None	None	None	N
Q/Y	0.6006	likely_pathogenic	0.6783	pathogenic	0.065	Stabilizing	0.999	D	0.558	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.