TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	26557	79894;79895;79896	chr2:178566463;178566462;178566461	chr2:179431190;179431189;179431188
N2AB	24916	74971;74972;74973	chr2:178566463;178566462;178566461	chr2:179431190;179431189;179431188
N2A	23989	72190;72191;72192	chr2:178566463;178566462;178566461	chr2:179431190;179431189;179431188
N2B	17492	52699;52700;52701	chr2:178566463;178566462;178566461	chr2:179431190;179431189;179431188
Novex-1	17617	53074;53075;53076	chr2:178566463;178566462;178566461	chr2:179431190;179431189;179431188
Novex-2	17684	53275;53276;53277	chr2:178566463;178566462;178566461	chr2:179431190;179431189;179431188
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: Fn3-81
• Domain position: 71
• Structural Position: 102
• Q(SASA): 0.3205
• 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/E	rs1705903957	None	0.64	N	0.41	0.178	0.195762928549	gnomAD-4.0.0	6.84361E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.9952E-07	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	0.2927	likely_benign	0.3034	benign	-0.834	Destabilizing	0.919	D	0.349	neutral	None	None	None	None	N
Q/C	0.5508	ambiguous	0.5624	ambiguous	-0.219	Destabilizing	0.999	D	0.623	neutral	None	None	None	None	N
Q/D	0.4486	ambiguous	0.4789	ambiguous	-1.381	Destabilizing	0.919	D	0.41	neutral	None	None	None	None	N
Q/E	0.0908	likely_benign	0.0925	benign	-1.192	Destabilizing	0.64	D	0.41	neutral	N	0.438999298	None	None	N
Q/F	0.7744	likely_pathogenic	0.7805	pathogenic	-0.224	Destabilizing	0.996	D	0.598	neutral	None	None	None	None	N
Q/G	0.3479	ambiguous	0.3562	ambiguous	-1.267	Destabilizing	0.919	D	0.427	neutral	None	None	None	None	N
Q/H	0.2513	likely_benign	0.2513	benign	-1.06	Destabilizing	0.995	D	0.399	neutral	N	0.480443276	None	None	N
Q/I	0.4376	ambiguous	0.4497	ambiguous	0.324	Stabilizing	0.988	D	0.577	neutral	None	None	None	None	N
Q/K	0.1249	likely_benign	0.1235	benign	-0.741	Destabilizing	0.026	N	0.167	neutral	N	0.444213117	None	None	N
Q/L	0.191	likely_benign	0.1926	benign	0.324	Stabilizing	0.896	D	0.427	neutral	N	0.517441439	None	None	N
Q/M	0.387	ambiguous	0.4042	ambiguous	0.707	Stabilizing	0.996	D	0.399	neutral	None	None	None	None	N
Q/N	0.3939	ambiguous	0.3965	ambiguous	-1.395	Destabilizing	0.919	D	0.399	neutral	None	None	None	None	N
Q/P	0.7925	likely_pathogenic	0.7844	pathogenic	-0.032	Destabilizing	0.984	D	0.391	neutral	N	0.498044641	None	None	N
Q/R	0.1344	likely_benign	0.1342	benign	-0.802	Destabilizing	0.811	D	0.417	neutral	N	0.464625674	None	None	N
Q/S	0.3272	likely_benign	0.3364	benign	-1.526	Destabilizing	0.919	D	0.367	neutral	None	None	None	None	N
Q/T	0.2256	likely_benign	0.2346	benign	-1.149	Destabilizing	0.919	D	0.362	neutral	None	None	None	None	N
Q/V	0.2855	likely_benign	0.3017	benign	-0.032	Destabilizing	0.988	D	0.422	neutral	None	None	None	None	N
Q/W	0.6297	likely_pathogenic	0.6475	pathogenic	-0.241	Destabilizing	0.999	D	0.592	neutral	None	None	None	None	N
Q/Y	0.5471	ambiguous	0.5587	ambiguous	0.038	Stabilizing	0.996	D	0.397	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.