TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30570	91933;91934;91935	chr2:178550130;178550129;178550128	chr2:179414857;179414856;179414855
N2AB	28929	87010;87011;87012	chr2:178550130;178550129;178550128	chr2:179414857;179414856;179414855
N2A	28002	84229;84230;84231	chr2:178550130;178550129;178550128	chr2:179414857;179414856;179414855
N2B	21505	64738;64739;64740	chr2:178550130;178550129;178550128	chr2:179414857;179414856;179414855
Novex-1	21630	65113;65114;65115	chr2:178550130;178550129;178550128	chr2:179414857;179414856;179414855
Novex-2	21697	65314;65315;65316	chr2:178550130;178550129;178550128	chr2:179414857;179414856;179414855
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: R
• RefSeq wild type transcript codon: AGG
• RefSeq wild type template codon: TCC
• Domain: Ig-149
• Domain position: 39
• Structural Position: 73
• Q(SASA): 0.6903
• 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/T	None	None	0.001	N	0.231	0.038	0.0401082797425	gnomAD-4.0.0	1.59126E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43283E-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
R/A	0.2276	likely_benign	0.264	benign	None	Stabilizing	0.016	N	0.275	neutral	None	None	None	None	N
R/C	0.1852	likely_benign	0.2047	benign	0.041	Stabilizing	0.864	D	0.207	neutral	None	None	None	None	N
R/D	0.4149	ambiguous	0.4804	ambiguous	0.021	Stabilizing	0.072	N	0.329	neutral	None	None	None	None	N
R/E	0.2374	likely_benign	0.2828	benign	0.102	Stabilizing	0.016	N	0.214	neutral	None	None	None	None	N
R/F	0.426	ambiguous	0.4724	ambiguous	-0.089	Destabilizing	0.214	N	0.246	neutral	None	None	None	None	N
R/G	0.129	likely_benign	0.1506	benign	-0.24	Destabilizing	None	N	0.181	neutral	N	0.354713328	None	None	N
R/H	0.108	likely_benign	0.1216	benign	-0.804	Destabilizing	0.356	N	0.259	neutral	None	None	None	None	N
R/I	0.2112	likely_benign	0.2363	benign	0.608	Stabilizing	0.038	N	0.326	neutral	None	None	None	None	N
R/K	0.0642	likely_benign	0.0704	benign	-0.011	Destabilizing	None	N	0.133	neutral	N	0.430579311	None	None	N
R/L	0.1839	likely_benign	0.2057	benign	0.608	Stabilizing	0.006	N	0.287	neutral	None	None	None	None	N
R/M	0.164	likely_benign	0.1837	benign	0.181	Stabilizing	0.005	N	0.217	neutral	N	0.486376665	None	None	N
R/N	0.3053	likely_benign	0.3606	ambiguous	0.36	Stabilizing	0.072	N	0.247	neutral	None	None	None	None	N
R/P	0.4076	ambiguous	0.4763	ambiguous	0.427	Stabilizing	0.136	N	0.324	neutral	None	None	None	None	N
R/Q	0.0887	likely_benign	0.1001	benign	0.243	Stabilizing	0.038	N	0.282	neutral	None	None	None	None	N
R/S	0.2766	likely_benign	0.3313	benign	-0.042	Destabilizing	0.012	N	0.269	neutral	N	0.376838039	None	None	N
R/T	0.1427	likely_benign	0.1646	benign	0.187	Stabilizing	0.001	N	0.231	neutral	N	0.420170316	None	None	N
R/V	0.2471	likely_benign	0.2784	benign	0.427	Stabilizing	0.038	N	0.301	neutral	None	None	None	None	N
R/W	0.1727	likely_benign	0.2046	benign	-0.066	Destabilizing	0.828	D	0.205	neutral	N	0.486550024	None	None	N
R/Y	0.311	likely_benign	0.3397	benign	0.322	Stabilizing	0.356	N	0.24	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.