TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7627	23104;23105;23106	chr2:178721140;178721139;178721138	chr2:179585867;179585866;179585865
N2AB	7310	22153;22154;22155	chr2:178721140;178721139;178721138	chr2:179585867;179585866;179585865
N2A	6383	19372;19373;19374	chr2:178721140;178721139;178721138	chr2:179585867;179585866;179585865
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: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-61
• Domain position: 20
• Structural Position: 29
• Q(SASA): 0.7051
• 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	None	N	0.307	0.221	0.112648838833	gnomAD-4.0.0	1.36986E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	0	3.31785E-05

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	0.2194	likely_benign	0.2095	benign	-0.38	Destabilizing	0.035	N	0.552	neutral	None	None	None	None	N
Q/C	0.4857	ambiguous	0.5095	ambiguous	0.05	Stabilizing	0.935	D	0.529	neutral	None	None	None	None	N
Q/D	0.3712	ambiguous	0.371	ambiguous	-0.016	Destabilizing	0.149	N	0.566	neutral	None	None	None	None	N
Q/E	0.0947	likely_benign	0.0928	benign	0.027	Stabilizing	0.027	N	0.467	neutral	N	0.442084383	None	None	N
Q/F	0.5063	ambiguous	0.55	ambiguous	-0.238	Destabilizing	0.38	N	0.546	neutral	None	None	None	None	N
Q/G	0.3044	likely_benign	0.3023	benign	-0.669	Destabilizing	0.149	N	0.555	neutral	None	None	None	None	N
Q/H	0.1348	likely_benign	0.14	benign	-0.42	Destabilizing	None	N	0.313	neutral	N	0.477602466	None	None	N
Q/I	0.2502	likely_benign	0.2748	benign	0.321	Stabilizing	0.555	D	0.553	neutral	None	None	None	None	N
Q/K	0.0789	likely_benign	0.0861	benign	-0.13	Destabilizing	None	N	0.307	neutral	N	0.405720938	None	None	N
Q/L	0.1059	likely_benign	0.1058	benign	0.321	Stabilizing	0.117	N	0.543	neutral	N	0.445586048	None	None	N
Q/M	0.2959	likely_benign	0.3156	benign	0.499	Stabilizing	0.791	D	0.571	neutral	None	None	None	None	N
Q/N	0.2636	likely_benign	0.2847	benign	-0.58	Destabilizing	0.081	N	0.564	neutral	None	None	None	None	N
Q/P	0.2253	likely_benign	0.2176	benign	0.118	Stabilizing	0.211	N	0.557	neutral	N	0.459121928	None	None	N
Q/R	0.0806	likely_benign	0.0829	benign	-0.006	Destabilizing	0.027	N	0.591	neutral	N	0.390636843	None	None	N
Q/S	0.2257	likely_benign	0.2253	benign	-0.633	Destabilizing	0.035	N	0.59	neutral	None	None	None	None	N
Q/T	0.1431	likely_benign	0.1485	benign	-0.406	Destabilizing	0.149	N	0.527	neutral	None	None	None	None	N
Q/V	0.1718	likely_benign	0.181	benign	0.118	Stabilizing	0.149	N	0.531	neutral	None	None	None	None	N
Q/W	0.388	ambiguous	0.4091	ambiguous	-0.151	Destabilizing	0.935	D	0.532	neutral	None	None	None	None	N
Q/Y	0.3267	likely_benign	0.3563	ambiguous	0.071	Stabilizing	0.081	N	0.549	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.