TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28704	86335;86336;86337	chr2:178560022;178560021;178560020	chr2:179424749;179424748;179424747
N2AB	27063	81412;81413;81414	chr2:178560022;178560021;178560020	chr2:179424749;179424748;179424747
N2A	26136	78631;78632;78633	chr2:178560022;178560021;178560020	chr2:179424749;179424748;179424747
N2B	19639	59140;59141;59142	chr2:178560022;178560021;178560020	chr2:179424749;179424748;179424747
Novex-1	19764	59515;59516;59517	chr2:178560022;178560021;178560020	chr2:179424749;179424748;179424747
Novex-2	19831	59716;59717;59718	chr2:178560022;178560021;178560020	chr2:179424749;179424748;179424747
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: AGC
• RefSeq wild type template codon: TCG
• Domain: Fn3-97
• Domain position: 54
• Structural Position: 72
• Q(SASA): 0.6072
• 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
S/G	None	None	None	N	0.103	0.067	0.158396225186	gnomAD-4.0.0	4.80131E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	5.25003E-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
S/A	0.079	likely_benign	0.0879	benign	-0.311	Destabilizing	0.007	N	0.155	neutral	None	None	None	None	N
S/C	0.0709	likely_benign	0.073	benign	-0.298	Destabilizing	None	N	0.223	neutral	N	0.519849813	None	None	N
S/D	0.2125	likely_benign	0.2035	benign	0.46	Stabilizing	0.016	N	0.184	neutral	None	None	None	None	N
S/E	0.3341	likely_benign	0.3309	benign	0.395	Stabilizing	0.016	N	0.174	neutral	None	None	None	None	N
S/F	0.1452	likely_benign	0.1658	benign	-0.766	Destabilizing	0.356	N	0.43	neutral	None	None	None	None	N
S/G	0.0686	likely_benign	0.0696	benign	-0.465	Destabilizing	None	N	0.103	neutral	N	0.443215826	None	None	N
S/H	0.1653	likely_benign	0.1579	benign	-0.9	Destabilizing	0.214	N	0.379	neutral	None	None	None	None	N
S/I	0.1208	likely_benign	0.1198	benign	-0.035	Destabilizing	0.055	N	0.487	neutral	N	0.495068798	None	None	N
S/K	0.3778	ambiguous	0.3731	ambiguous	-0.376	Destabilizing	0.016	N	0.195	neutral	None	None	None	None	N
S/L	0.0917	likely_benign	0.0987	benign	-0.035	Destabilizing	0.016	N	0.343	neutral	None	None	None	None	N
S/M	0.1368	likely_benign	0.1387	benign	0.033	Stabilizing	0.628	D	0.375	neutral	None	None	None	None	N
S/N	0.0587	likely_benign	0.0543	benign	-0.15	Destabilizing	None	N	0.107	neutral	N	0.416261298	None	None	N
S/P	0.2113	likely_benign	0.2345	benign	-0.095	Destabilizing	0.136	N	0.418	neutral	None	None	None	None	N
S/Q	0.2726	likely_benign	0.2712	benign	-0.323	Destabilizing	0.072	N	0.306	neutral	None	None	None	None	N
S/R	0.3437	ambiguous	0.3631	ambiguous	-0.241	Destabilizing	None	N	0.269	neutral	N	0.466727404	None	None	N
S/T	0.0712	likely_benign	0.0722	benign	-0.259	Destabilizing	0.012	N	0.206	neutral	N	0.447005493	None	None	N
S/V	0.1269	likely_benign	0.1305	benign	-0.095	Destabilizing	0.038	N	0.389	neutral	None	None	None	None	N
S/W	0.2446	likely_benign	0.2725	benign	-0.781	Destabilizing	0.864	D	0.398	neutral	None	None	None	None	N
S/Y	0.1056	likely_benign	0.107	benign	-0.487	Destabilizing	0.628	D	0.429	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.