TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19131	57616;57617;57618	chr2:178597691;178597690;178597689	chr2:179462418;179462417;179462416
N2AB	17490	52693;52694;52695	chr2:178597691;178597690;178597689	chr2:179462418;179462417;179462416
N2A	16563	49912;49913;49914	chr2:178597691;178597690;178597689	chr2:179462418;179462417;179462416
N2B	10066	30421;30422;30423	chr2:178597691;178597690;178597689	chr2:179462418;179462417;179462416
Novex-1	10191	30796;30797;30798	chr2:178597691;178597690;178597689	chr2:179462418;179462417;179462416
Novex-2	10258	30997;30998;30999	chr2:178597691;178597690;178597689	chr2:179462418;179462417;179462416
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: R
• RefSeq wild type transcript codon: AGA
• RefSeq wild type template codon: TCT
• Domain: Ig-117
• Domain position: 37
• Structural Position: 55
• Q(SASA): 0.4199
• 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
R/K	None	None	None	N	0.148	0.11	0.130388298395	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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
R/A	0.1541	likely_benign	0.1699	benign	0.019	Stabilizing	None	N	0.153	neutral	None	None	None	None	N
R/C	0.1271	likely_benign	0.1337	benign	-0.017	Destabilizing	0.676	D	0.34	neutral	None	None	None	None	N
R/D	0.2501	likely_benign	0.2703	benign	-0.084	Destabilizing	0.038	N	0.351	neutral	None	None	None	None	N
R/E	0.15	likely_benign	0.1609	benign	-0.026	Destabilizing	0.016	N	0.207	neutral	None	None	None	None	N
R/F	0.3388	likely_benign	0.3826	ambiguous	-0.199	Destabilizing	0.214	N	0.413	neutral	None	None	None	None	N
R/G	0.0926	likely_benign	0.1071	benign	-0.175	Destabilizing	None	N	0.183	neutral	N	0.449230226	None	None	N
R/H	0.0785	likely_benign	0.0792	benign	-0.687	Destabilizing	0.356	N	0.237	neutral	None	None	None	None	N
R/I	0.144	likely_benign	0.1573	benign	0.495	Stabilizing	0.029	N	0.45	neutral	N	0.472395087	None	None	N
R/K	0.064	likely_benign	0.0634	benign	-0.003	Destabilizing	None	N	0.148	neutral	N	0.411613201	None	None	N
R/L	0.1417	likely_benign	0.1572	benign	0.495	Stabilizing	0.006	N	0.279	neutral	None	None	None	None	N
R/M	0.1261	likely_benign	0.1351	benign	0.124	Stabilizing	0.002	N	0.245	neutral	None	None	None	None	N
R/N	0.1858	likely_benign	0.188	benign	0.292	Stabilizing	0.038	N	0.183	neutral	None	None	None	None	N
R/P	0.7272	likely_pathogenic	0.7963	pathogenic	0.357	Stabilizing	0.072	N	0.44	neutral	None	None	None	None	N
R/Q	0.0696	likely_benign	0.0672	benign	0.164	Stabilizing	0.001	N	0.218	neutral	None	None	None	None	N
R/S	0.1649	likely_benign	0.1863	benign	-0.053	Destabilizing	None	N	0.207	neutral	N	0.455998696	None	None	N
R/T	0.0925	likely_benign	0.0969	benign	0.134	Stabilizing	0.012	N	0.322	neutral	N	0.471701654	None	None	N
R/V	0.1631	likely_benign	0.1728	benign	0.357	Stabilizing	0.016	N	0.349	neutral	None	None	None	None	N
R/W	0.1862	likely_benign	0.2246	benign	-0.252	Destabilizing	0.864	D	0.348	neutral	None	None	None	None	N
R/Y	0.2352	likely_benign	0.2664	benign	0.155	Stabilizing	0.356	N	0.401	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.