TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6584	19975;19976;19977	chr2:178727828;178727827;178727826	chr2:179592555;179592554;179592553
N2AB	6267	19024;19025;19026	chr2:178727828;178727827;178727826	chr2:179592555;179592554;179592553
N2A	5340	16243;16244;16245	chr2:178727828;178727827;178727826	chr2:179592555;179592554;179592553
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-50
• Domain position: 11
• Structural Position: 14
• Q(SASA): 0.5652
• 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	rs908969278	None	0.002	N	0.151	0.106	None	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	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	0.2251	likely_benign	0.2199	benign	-0.201	Destabilizing	0.013	N	0.149	neutral	None	None	None	None	N
Q/C	0.7644	likely_pathogenic	0.7801	pathogenic	0.129	Stabilizing	0.995	D	0.256	neutral	None	None	None	None	N
Q/D	0.3057	likely_benign	0.2788	benign	0.083	Stabilizing	0.003	N	0.143	neutral	None	None	None	None	N
Q/E	0.0678	likely_benign	0.0657	benign	0.085	Stabilizing	0.139	N	0.177	neutral	N	0.361800456	None	None	N
Q/F	0.6749	likely_pathogenic	0.6875	pathogenic	-0.232	Destabilizing	0.944	D	0.302	neutral	None	None	None	None	N
Q/G	0.3282	likely_benign	0.319	benign	-0.434	Destabilizing	0.329	N	0.237	neutral	None	None	None	None	N
Q/H	0.2446	likely_benign	0.2392	benign	-0.259	Destabilizing	0.975	D	0.301	neutral	N	0.493309077	None	None	N
Q/I	0.3366	likely_benign	0.3447	ambiguous	0.337	Stabilizing	0.543	D	0.378	neutral	None	None	None	None	N
Q/K	0.102	likely_benign	0.0975	benign	0.01	Stabilizing	0.002	N	0.151	neutral	N	0.429276242	None	None	N
Q/L	0.137	likely_benign	0.1368	benign	0.337	Stabilizing	0.27	N	0.25	neutral	N	0.468450705	None	None	N
Q/M	0.3477	ambiguous	0.3547	ambiguous	0.466	Stabilizing	0.944	D	0.283	neutral	None	None	None	None	N
Q/N	0.2797	likely_benign	0.2668	benign	-0.35	Destabilizing	0.704	D	0.196	neutral	None	None	None	None	N
Q/P	0.181	likely_benign	0.1747	benign	0.188	Stabilizing	0.784	D	0.311	neutral	N	0.512337555	None	None	N
Q/R	0.126	likely_benign	0.127	benign	0.148	Stabilizing	0.473	N	0.211	neutral	N	0.452211816	None	None	N
Q/S	0.2656	likely_benign	0.2596	benign	-0.368	Destabilizing	0.037	N	0.143	neutral	None	None	None	None	N
Q/T	0.1866	likely_benign	0.1891	benign	-0.201	Destabilizing	0.329	N	0.291	neutral	None	None	None	None	N
Q/V	0.2155	likely_benign	0.2194	benign	0.188	Stabilizing	0.031	N	0.179	neutral	None	None	None	None	N
Q/W	0.5651	likely_pathogenic	0.5664	pathogenic	-0.192	Destabilizing	0.995	D	0.271	neutral	None	None	None	None	N
Q/Y	0.4771	ambiguous	0.4894	ambiguous	0.051	Stabilizing	0.981	D	0.326	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.