TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8918	26977;26978;26979	chr2:178713906;178713905;178713904	chr2:179578633;179578632;179578631
N2AB	8601	26026;26027;26028	chr2:178713906;178713905;178713904	chr2:179578633;179578632;179578631
N2A	7674	23245;23246;23247	chr2:178713906;178713905;178713904	chr2:179578633;179578632;179578631
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-74
• Domain position: 89
• Structural Position: 175
• Q(SASA): 0.3305
• 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	0.002	N	0.038	0.148	0.166414681773	gnomAD-4.0.0	3.4231E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	4.4996E-06	0	0
Q/R	rs760040495	0.337	0.061	N	0.213	0.113	0.158396225186	gnomAD-2.1.1	8.07E-06	None	None	None	None	N	None	0	0	None	0	1.11445E-04	None	0	None	0	0	0
Q/R	rs760040495	0.337	0.061	N	0.213	0.113	0.158396225186	gnomAD-4.0.0	3.42336E-06	None	None	None	None	N	None	0	0	None	0	7.56201E-05	None	0	0	1.79993E-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	0.1604	likely_benign	0.1842	benign	-0.558	Destabilizing	0.001	N	0.099	neutral	None	None	None	None	N
Q/C	0.3743	ambiguous	0.4638	ambiguous	0.056	Stabilizing	0.901	D	0.403	neutral	None	None	None	None	N
Q/D	0.1744	likely_benign	0.1953	benign	0.043	Stabilizing	0.001	N	0.042	neutral	None	None	None	None	N
Q/E	0.0662	likely_benign	0.0661	benign	0.063	Stabilizing	0.028	N	0.19	neutral	N	0.454636046	None	None	N
Q/F	0.336	likely_benign	0.3981	ambiguous	-0.574	Destabilizing	0.296	N	0.487	neutral	None	None	None	None	N
Q/G	0.2076	likely_benign	0.265	benign	-0.812	Destabilizing	0.036	N	0.309	neutral	None	None	None	None	N
Q/H	0.088	likely_benign	0.1083	benign	-0.763	Destabilizing	None	N	0.041	neutral	N	0.449539657	None	None	N
Q/I	0.2055	likely_benign	0.2234	benign	0.045	Stabilizing	0.296	N	0.497	neutral	None	None	None	None	N
Q/K	0.0801	likely_benign	0.085	benign	0.008	Stabilizing	0.002	N	0.038	neutral	N	0.448555436	None	None	N
Q/L	0.0802	likely_benign	0.0913	benign	0.045	Stabilizing	0.116	N	0.343	neutral	N	0.446499352	None	None	N
Q/M	0.2657	likely_benign	0.2767	benign	0.476	Stabilizing	0.901	D	0.265	neutral	None	None	None	None	N
Q/N	0.1572	likely_benign	0.1831	benign	-0.415	Destabilizing	0.08	N	0.211	neutral	None	None	None	None	N
Q/P	0.2624	likely_benign	0.4106	ambiguous	-0.127	Destabilizing	0.391	N	0.356	neutral	N	0.487266627	None	None	N
Q/R	0.0782	likely_benign	0.088	benign	0.078	Stabilizing	0.061	N	0.213	neutral	N	0.442728328	None	None	N
Q/S	0.1644	likely_benign	0.1876	benign	-0.51	Destabilizing	0.036	N	0.168	neutral	None	None	None	None	N
Q/T	0.1308	likely_benign	0.136	benign	-0.306	Destabilizing	0.001	N	0.126	neutral	None	None	None	None	N
Q/V	0.1496	likely_benign	0.1616	benign	-0.127	Destabilizing	0.148	N	0.343	neutral	None	None	None	None	N
Q/W	0.2396	likely_benign	0.2891	benign	-0.425	Destabilizing	0.972	D	0.377	neutral	None	None	None	None	N
Q/Y	0.1952	likely_benign	0.248	benign	-0.203	Destabilizing	0.174	N	0.388	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.