TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29775	89548;89549;89550	chr2:178553682;178553681;178553680	chr2:179418409;179418408;179418407
N2AB	28134	84625;84626;84627	chr2:178553682;178553681;178553680	chr2:179418409;179418408;179418407
N2A	27207	81844;81845;81846	chr2:178553682;178553681;178553680	chr2:179418409;179418408;179418407
N2B	20710	62353;62354;62355	chr2:178553682;178553681;178553680	chr2:179418409;179418408;179418407
Novex-1	20835	62728;62729;62730	chr2:178553682;178553681;178553680	chr2:179418409;179418408;179418407
Novex-2	20902	62929;62930;62931	chr2:178553682;178553681;178553680	chr2:179418409;179418408;179418407
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: Fn3-105
• Domain position: 42
• Structural Position: 44
• Q(SASA): 0.3355
• 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/H	None	None	0.47	N	0.285	0.059	0.323615622048	gnomAD-4.0.0	1.59116E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85801E-06	0	0
Q/R	None	None	0.049	N	0.216	0.116	0.211220785272	gnomAD-4.0.0	1.59118E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43275E-05	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	0.1544	likely_benign	0.1502	benign	-0.718	Destabilizing	0.015	N	0.218	neutral	None	None	None	None	N
Q/C	0.5224	ambiguous	0.5322	ambiguous	-0.097	Destabilizing	0.781	D	0.393	neutral	None	None	None	None	N
Q/D	0.2958	likely_benign	0.265	benign	-0.316	Destabilizing	0.015	N	0.191	neutral	None	None	None	None	N
Q/E	0.0676	likely_benign	0.0614	benign	-0.196	Destabilizing	None	N	0.055	neutral	N	0.342318113	None	None	N
Q/F	0.6339	likely_pathogenic	0.6345	pathogenic	-0.373	Destabilizing	0.54	D	0.487	neutral	None	None	None	None	N
Q/G	0.2416	likely_benign	0.2274	benign	-1.077	Destabilizing	0.064	N	0.306	neutral	None	None	None	None	N
Q/H	0.2092	likely_benign	0.2019	benign	-0.629	Destabilizing	0.47	N	0.285	neutral	N	0.464148459	None	None	N
Q/I	0.2734	likely_benign	0.2771	benign	0.207	Stabilizing	0.001	N	0.227	neutral	None	None	None	None	N
Q/K	0.0774	likely_benign	0.0768	benign	-0.26	Destabilizing	0.011	N	0.223	neutral	N	0.358538359	None	None	N
Q/L	0.1247	likely_benign	0.1246	benign	0.207	Stabilizing	0.011	N	0.286	neutral	N	0.419434889	None	None	N
Q/M	0.2926	likely_benign	0.2991	benign	0.432	Stabilizing	0.54	D	0.281	neutral	None	None	None	None	N
Q/N	0.2281	likely_benign	0.2248	benign	-0.874	Destabilizing	None	N	0.058	neutral	None	None	None	None	N
Q/P	0.1174	likely_benign	0.1104	benign	-0.071	Destabilizing	0.202	N	0.403	neutral	N	0.401827776	None	None	N
Q/R	0.095	likely_benign	0.0942	benign	-0.15	Destabilizing	0.049	N	0.216	neutral	N	0.383436804	None	None	N
Q/S	0.1678	likely_benign	0.1797	benign	-1.02	Destabilizing	0.015	N	0.191	neutral	None	None	None	None	N
Q/T	0.1316	likely_benign	0.1407	benign	-0.697	Destabilizing	0.001	N	0.093	neutral	None	None	None	None	N
Q/V	0.1756	likely_benign	0.1758	benign	-0.071	Destabilizing	0.015	N	0.295	neutral	None	None	None	None	N
Q/W	0.5635	ambiguous	0.5288	ambiguous	-0.243	Destabilizing	0.931	D	0.382	neutral	None	None	None	None	N
Q/Y	0.4524	ambiguous	0.4394	ambiguous	-0.016	Destabilizing	0.505	D	0.44	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.