TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5126	15601;15602;15603	chr2:178734448;178734447;178734446	chr2:179599175;179599174;179599173
N2AB	4809	14650;14651;14652	chr2:178734448;178734447;178734446	chr2:179599175;179599174;179599173
N2A	3882	11869;11870;11871	chr2:178734448;178734447;178734446	chr2:179599175;179599174;179599173
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-34
• Domain position: 52
• Structural Position: 130
• Q(SASA): 0.3032
• 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	rs867299578	0.042	0.248	N	0.193	0.233	0.152612264143	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	2.9E-05	None	0	0	None	0	None	0	0	0
Q/K	rs867299578	0.042	0.248	N	0.193	0.233	0.152612264143	gnomAD-4.0.0	1.59148E-06	None	None	None	None	N	None	0	2.28676E-05	None	0	0	None	0	0	0	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	0.2479	likely_benign	0.301	benign	-0.162	Destabilizing	0.97	D	0.44	neutral	None	None	None	None	N
Q/C	0.6465	likely_pathogenic	0.7318	pathogenic	0.04	Stabilizing	1.0	D	0.631	neutral	None	None	None	None	N
Q/D	0.2539	likely_benign	0.2949	benign	0.203	Stabilizing	0.985	D	0.437	neutral	None	None	None	None	N
Q/E	0.075	likely_benign	0.08	benign	0.176	Stabilizing	0.91	D	0.348	neutral	N	0.416701442	None	None	N
Q/F	0.6568	likely_pathogenic	0.7423	pathogenic	-0.449	Destabilizing	0.999	D	0.62	neutral	None	None	None	None	N
Q/G	0.2178	likely_benign	0.2581	benign	-0.321	Destabilizing	0.985	D	0.493	neutral	None	None	None	None	N
Q/H	0.1762	likely_benign	0.2038	benign	-0.112	Destabilizing	0.998	D	0.502	neutral	N	0.493996747	None	None	N
Q/I	0.4224	ambiguous	0.4953	ambiguous	0.162	Stabilizing	0.999	D	0.608	neutral	None	None	None	None	N
Q/K	0.0837	likely_benign	0.0911	benign	0.134	Stabilizing	0.248	N	0.193	neutral	N	0.435904354	None	None	N
Q/L	0.1583	likely_benign	0.1872	benign	0.162	Stabilizing	0.98	D	0.493	neutral	N	0.510033142	None	None	N
Q/M	0.4116	ambiguous	0.4713	ambiguous	0.221	Stabilizing	0.999	D	0.503	neutral	None	None	None	None	N
Q/N	0.2272	likely_benign	0.2777	benign	-0.239	Destabilizing	0.985	D	0.441	neutral	None	None	None	None	N
Q/P	0.2404	likely_benign	0.2795	benign	0.081	Stabilizing	0.998	D	0.496	neutral	N	0.512590657	None	None	N
Q/R	0.0948	likely_benign	0.0971	benign	0.282	Stabilizing	0.925	D	0.423	neutral	N	0.479765668	None	None	N
Q/S	0.2174	likely_benign	0.2629	benign	-0.238	Destabilizing	0.97	D	0.405	neutral	None	None	None	None	N
Q/T	0.2116	likely_benign	0.2566	benign	-0.111	Destabilizing	0.985	D	0.451	neutral	None	None	None	None	N
Q/V	0.2858	likely_benign	0.339	benign	0.081	Stabilizing	0.996	D	0.495	neutral	None	None	None	None	N
Q/W	0.4798	ambiguous	0.5521	ambiguous	-0.469	Destabilizing	1.0	D	0.649	neutral	None	None	None	None	N
Q/Y	0.4347	ambiguous	0.5154	ambiguous	-0.187	Destabilizing	0.999	D	0.543	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.