TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7424	22495;22496;22497	chr2:178722517;178722516;178722515	chr2:179587244;179587243;179587242
N2AB	7107	21544;21545;21546	chr2:178722517;178722516;178722515	chr2:179587244;179587243;179587242
N2A	6180	18763;18764;18765	chr2:178722517;178722516;178722515	chr2:179587244;179587243;179587242
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-59
• Domain position: 6
• Structural Position: 7
• Q(SASA): 0.55
• 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	None	None	0.139	N	0.178	0.196	0.218112801441	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-06	0	0
Q/K	None	None	0.001	N	0.1	0.272	0.162503812791	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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	0.1859	likely_benign	0.1983	benign	-0.614	Destabilizing	0.3	N	0.321	neutral	None	None	None	None	N
Q/C	0.7301	likely_pathogenic	0.7047	pathogenic	0.048	Stabilizing	0.995	D	0.443	neutral	None	None	None	None	N
Q/D	0.4207	ambiguous	0.4229	ambiguous	0.251	Stabilizing	0.495	N	0.369	neutral	None	None	None	None	N
Q/E	0.0925	likely_benign	0.0884	benign	0.309	Stabilizing	0.139	N	0.178	neutral	N	0.419272679	None	None	N
Q/F	0.6756	likely_pathogenic	0.663	pathogenic	-0.405	Destabilizing	0.981	D	0.459	neutral	None	None	None	None	N
Q/G	0.2654	likely_benign	0.2645	benign	-0.914	Destabilizing	0.495	N	0.447	neutral	None	None	None	None	N
Q/H	0.2056	likely_benign	0.2273	benign	-0.616	Destabilizing	0.927	D	0.413	neutral	N	0.467797344	None	None	N
Q/I	0.3632	ambiguous	0.3722	ambiguous	0.127	Stabilizing	0.944	D	0.52	neutral	None	None	None	None	N
Q/K	0.0778	likely_benign	0.0819	benign	-0.036	Destabilizing	0.001	N	0.1	neutral	N	0.371998807	None	None	N
Q/L	0.1354	likely_benign	0.1363	benign	0.127	Stabilizing	0.425	N	0.447	neutral	N	0.485516313	None	None	N
Q/M	0.3388	likely_benign	0.3546	ambiguous	0.443	Stabilizing	0.981	D	0.414	neutral	None	None	None	None	N
Q/N	0.2897	likely_benign	0.3028	benign	-0.47	Destabilizing	0.495	N	0.369	neutral	None	None	None	None	N
Q/P	0.0797	likely_benign	0.0839	benign	-0.089	Destabilizing	0.784	D	0.467	neutral	N	0.433548698	None	None	N
Q/R	0.1113	likely_benign	0.1097	benign	0.052	Stabilizing	0.002	N	0.128	neutral	N	0.440533385	None	None	N
Q/S	0.2308	likely_benign	0.2407	benign	-0.64	Destabilizing	0.495	N	0.335	neutral	None	None	None	None	N
Q/T	0.1754	likely_benign	0.1831	benign	-0.385	Destabilizing	0.495	N	0.463	neutral	None	None	None	None	N
Q/V	0.2362	likely_benign	0.2422	benign	-0.089	Destabilizing	0.828	D	0.494	neutral	None	None	None	None	N
Q/W	0.6042	likely_pathogenic	0.5864	pathogenic	-0.227	Destabilizing	0.995	D	0.453	neutral	None	None	None	None	N
Q/Y	0.4831	ambiguous	0.4809	ambiguous	-0.036	Destabilizing	0.981	D	0.51	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.