TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9705	29338;29339;29340	chr2:178706883;178706882;178706881	chr2:179571610;179571609;179571608
N2AB	9388	28387;28388;28389	chr2:178706883;178706882;178706881	chr2:179571610;179571609;179571608
N2A	8461	25606;25607;25608	chr2:178706883;178706882;178706881	chr2:179571610;179571609;179571608
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-83
• Domain position: 8
• Structural Position: 9
• Q(SASA): 0.4822
• 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	None	None	0.023	None	0.09	0.122	0.218112801441	gnomAD-4.0.0	1.36967E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.79987E-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	0.3139	likely_benign	0.2516	benign	-0.151	Destabilizing	0.329	N	0.296	neutral	None	None	None	None	N
Q/C	0.8749	likely_pathogenic	0.7897	pathogenic	-0.035	Destabilizing	0.995	D	0.368	neutral	None	None	None	None	N
Q/D	0.6377	likely_pathogenic	0.4868	ambiguous	0.071	Stabilizing	0.704	D	0.294	neutral	None	None	None	None	N
Q/E	0.1077	likely_benign	0.0942	benign	0.063	Stabilizing	0.425	N	0.279	neutral	None	None	None	None	N
Q/F	0.9059	likely_pathogenic	0.8218	pathogenic	-0.386	Destabilizing	0.981	D	0.392	neutral	None	None	None	None	N
Q/G	0.4486	ambiguous	0.3169	benign	-0.331	Destabilizing	0.329	N	0.319	neutral	None	None	None	None	N
Q/H	0.4114	ambiguous	0.2961	benign	-0.043	Destabilizing	0.975	D	0.372	neutral	None	None	None	None	N
Q/I	0.607	likely_pathogenic	0.5237	ambiguous	0.238	Stabilizing	0.944	D	0.399	neutral	None	None	None	None	N
Q/K	0.0819	likely_benign	0.0778	benign	0.066	Stabilizing	0.003	N	0.097	neutral	None	None	None	None	N
Q/L	0.2924	likely_benign	0.2126	benign	0.238	Stabilizing	0.642	D	0.367	neutral	None	None	None	None	N
Q/M	0.5842	likely_pathogenic	0.5004	ambiguous	0.142	Stabilizing	0.981	D	0.37	neutral	None	None	None	None	N
Q/N	0.4754	ambiguous	0.3753	ambiguous	-0.312	Destabilizing	0.704	D	0.287	neutral	None	None	None	None	N
Q/P	0.4463	ambiguous	0.2144	benign	0.136	Stabilizing	0.784	D	0.384	neutral	None	None	None	None	N
Q/R	0.1264	likely_benign	0.1011	benign	0.25	Stabilizing	0.023	N	0.09	neutral	None	None	None	None	N
Q/S	0.3932	ambiguous	0.2999	benign	-0.302	Destabilizing	0.013	N	0.098	neutral	None	None	None	None	N
Q/T	0.3231	likely_benign	0.2666	benign	-0.156	Destabilizing	0.329	N	0.327	neutral	None	None	None	None	N
Q/V	0.4014	ambiguous	0.3366	benign	0.136	Stabilizing	0.704	D	0.363	neutral	None	None	None	None	N
Q/W	0.8615	likely_pathogenic	0.6943	pathogenic	-0.421	Destabilizing	0.995	D	0.379	neutral	None	None	None	None	N
Q/Y	0.7792	likely_pathogenic	0.6407	pathogenic	-0.131	Destabilizing	0.981	D	0.375	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.