TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7488	22687;22688;22689	chr2:178722325;178722324;178722323	chr2:179587052;179587051;179587050
N2AB	7171	21736;21737;21738	chr2:178722325;178722324;178722323	chr2:179587052;179587051;179587050
N2A	6244	18955;18956;18957	chr2:178722325;178722324;178722323	chr2:179587052;179587051;179587050
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-59
• Domain position: 70
• Structural Position: 153
• Q(SASA): 0.5349
• 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/L	rs959952502	None	0.647	N	0.449	0.303	None	gnomAD-4.0.0	6.16171E-06	None	None	None	None	N	None	0	0	None	3.45092E-04	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	0.2875	likely_benign	0.2777	benign	-0.6	Destabilizing	0.143	N	0.248	neutral	None	None	None	None	N
Q/C	0.7659	likely_pathogenic	0.7317	pathogenic	-0.008	Destabilizing	0.999	D	0.562	neutral	None	None	None	None	N
Q/D	0.4465	ambiguous	0.4173	ambiguous	-0.558	Destabilizing	0.647	D	0.413	neutral	None	None	None	None	N
Q/E	0.1013	likely_benign	0.0944	benign	-0.526	Destabilizing	0.017	N	0.182	neutral	N	0.439858595	None	None	N
Q/F	0.5995	likely_pathogenic	0.5853	pathogenic	-0.661	Destabilizing	0.992	D	0.585	neutral	None	None	None	None	N
Q/G	0.4101	ambiguous	0.4003	ambiguous	-0.868	Destabilizing	0.924	D	0.475	neutral	None	None	None	None	N
Q/H	0.2157	likely_benign	0.2206	benign	-0.917	Destabilizing	0.995	D	0.523	neutral	N	0.50631566	None	None	N
Q/I	0.2749	likely_benign	0.2626	benign	0.046	Stabilizing	0.855	D	0.529	neutral	None	None	None	None	N
Q/K	0.1151	likely_benign	0.1109	benign	-0.114	Destabilizing	0.785	D	0.449	neutral	N	0.493402291	None	None	N
Q/L	0.125	likely_benign	0.1227	benign	0.046	Stabilizing	0.647	D	0.449	neutral	N	0.487652541	None	None	N
Q/M	0.3492	ambiguous	0.3424	ambiguous	0.622	Stabilizing	0.988	D	0.527	neutral	None	None	None	None	N
Q/N	0.2946	likely_benign	0.2726	benign	-0.571	Destabilizing	0.947	D	0.411	neutral	None	None	None	None	N
Q/P	0.2103	likely_benign	0.2217	benign	-0.14	Destabilizing	0.931	D	0.537	neutral	N	0.486275441	None	None	N
Q/R	0.1226	likely_benign	0.1222	benign	0.01	Stabilizing	0.853	D	0.38	neutral	N	0.468103989	None	None	N
Q/S	0.3016	likely_benign	0.2873	benign	-0.647	Destabilizing	0.859	D	0.431	neutral	None	None	None	None	N
Q/T	0.2207	likely_benign	0.208	benign	-0.439	Destabilizing	0.321	N	0.461	neutral	None	None	None	None	N
Q/V	0.2234	likely_benign	0.2122	benign	-0.14	Destabilizing	0.045	N	0.339	neutral	None	None	None	None	N
Q/W	0.5024	ambiguous	0.4993	ambiguous	-0.527	Destabilizing	1.0	D	0.588	neutral	None	None	None	None	N
Q/Y	0.4345	ambiguous	0.4267	ambiguous	-0.273	Destabilizing	0.997	D	0.583	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.