TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3852	11779;11780;11781	chr2:178741679;178741678;178741677	chr2:179606406;179606405;179606404
N2AB	3535	10828;10829;10830	chr2:178741679;178741678;178741677	chr2:179606406;179606405;179606404
N2A	None	None	chr2:None	chr2:None
N2B	3489	10690;10691;10692	chr2:178741679;178741678;178741677	chr2:179606406;179606405;179606404
Novex-1	3614	11065;11066;11067	chr2:178741679;178741678;178741677	chr2:179606406;179606405;179606404
Novex-2	3681	11266;11267;11268	chr2:178741679;178741678;178741677	chr2:179606406;179606405;179606404
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-27
• Domain position: 33
• Structural Position: 47
• Q(SASA): 0.4253
• 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/L	None	None	0.801	N	0.542	0.287	None	gnomAD-4.0.0	1.59123E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85832E-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	0.3987	ambiguous	0.3903	ambiguous	-0.743	Destabilizing	0.688	D	0.494	neutral	None	None	None	None	N
Q/C	0.673	likely_pathogenic	0.6564	pathogenic	-0.09	Destabilizing	0.998	D	0.619	neutral	None	None	None	None	N
Q/D	0.5539	ambiguous	0.5104	ambiguous	-0.425	Destabilizing	0.728	D	0.504	neutral	None	None	None	None	N
Q/E	0.1037	likely_benign	0.1019	benign	-0.271	Destabilizing	0.012	N	0.253	neutral	N	0.449199609	None	None	N
Q/F	0.7981	likely_pathogenic	0.7556	pathogenic	-0.293	Destabilizing	0.991	D	0.596	neutral	None	None	None	None	N
Q/G	0.4929	ambiguous	0.4709	ambiguous	-1.135	Destabilizing	0.842	D	0.539	neutral	None	None	None	None	N
Q/H	0.2798	likely_benign	0.2539	benign	-0.688	Destabilizing	0.966	D	0.535	neutral	N	0.508414296	None	None	N
Q/I	0.4742	ambiguous	0.4546	ambiguous	0.282	Stabilizing	0.974	D	0.601	neutral	None	None	None	None	N
Q/K	0.1255	likely_benign	0.1181	benign	-0.283	Destabilizing	0.012	N	0.281	neutral	N	0.47113012	None	None	N
Q/L	0.212	likely_benign	0.1994	benign	0.282	Stabilizing	0.801	D	0.542	neutral	N	0.502338666	None	None	N
Q/M	0.5015	ambiguous	0.4806	ambiguous	0.534	Stabilizing	0.991	D	0.545	neutral	None	None	None	None	N
Q/N	0.4355	ambiguous	0.3829	ambiguous	-0.922	Destabilizing	0.842	D	0.486	neutral	None	None	None	None	N
Q/P	0.8191	likely_pathogenic	0.7813	pathogenic	-0.03	Destabilizing	0.966	D	0.577	neutral	D	0.629200691	None	None	N
Q/R	0.1306	likely_benign	0.1293	benign	-0.247	Destabilizing	0.012	N	0.403	neutral	N	0.489189357	None	None	N
Q/S	0.3897	ambiguous	0.3666	ambiguous	-1.11	Destabilizing	0.842	D	0.507	neutral	None	None	None	None	N
Q/T	0.3068	likely_benign	0.2861	benign	-0.748	Destabilizing	0.842	D	0.506	neutral	None	None	None	None	N
Q/V	0.3868	ambiguous	0.3824	ambiguous	-0.03	Destabilizing	0.915	D	0.593	neutral	None	None	None	None	N
Q/W	0.6481	likely_pathogenic	0.6256	pathogenic	-0.168	Destabilizing	0.998	D	0.621	neutral	None	None	None	None	N
Q/Y	0.5543	ambiguous	0.5052	ambiguous	0.07	Stabilizing	0.991	D	0.583	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.