TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	19189	57790;57791;57792	chr2:178595789;178595788;178595787	chr2:179460516;179460515;179460514
N2AB	17548	52867;52868;52869	chr2:178595789;178595788;178595787	chr2:179460516;179460515;179460514
N2A	16621	50086;50087;50088	chr2:178595789;178595788;178595787	chr2:179460516;179460515;179460514
N2B	10124	30595;30596;30597	chr2:178595789;178595788;178595787	chr2:179460516;179460515;179460514
Novex-1	10249	30970;30971;30972	chr2:178595789;178595788;178595787	chr2:179460516;179460515;179460514
Novex-2	10316	31171;31172;31173	chr2:178595789;178595788;178595787	chr2:179460516;179460515;179460514
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Fn3-27
• Domain position: 7
• Structural Position: 7
• Q(SASA): 0.3945
• 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
T/K	None	None	0.007	N	0.319	0.064	0.0401082797425	gnomAD-4.0.0	1.61477E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.89347E-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
T/A	0.0669	likely_benign	0.0672	benign	-0.285	Destabilizing	0.001	N	0.147	neutral	N	0.408299884	None	None	N
T/C	0.1781	likely_benign	0.2151	benign	-0.455	Destabilizing	0.245	N	0.332	neutral	None	None	None	None	N
T/D	0.16	likely_benign	0.2029	benign	0.33	Stabilizing	0.009	N	0.35	neutral	None	None	None	None	N
T/E	0.1147	likely_benign	0.139	benign	0.278	Stabilizing	None	N	0.166	neutral	None	None	None	None	N
T/F	0.0815	likely_benign	0.1053	benign	-0.845	Destabilizing	0.018	N	0.375	neutral	None	None	None	None	N
T/G	0.1368	likely_benign	0.1546	benign	-0.402	Destabilizing	0.018	N	0.287	neutral	None	None	None	None	N
T/H	0.107	likely_benign	0.124	benign	-0.494	Destabilizing	0.245	N	0.42	neutral	None	None	None	None	N
T/I	0.0479	likely_benign	0.0577	benign	-0.098	Destabilizing	None	N	0.135	neutral	N	0.432408894	None	None	N
T/K	0.0742	likely_benign	0.0887	benign	-0.224	Destabilizing	0.007	N	0.319	neutral	N	0.416244576	None	None	N
T/L	0.0461	likely_benign	0.051	benign	-0.098	Destabilizing	None	N	0.137	neutral	None	None	None	None	N
T/M	0.0573	likely_benign	0.0612	benign	-0.28	Destabilizing	0.001	N	0.197	neutral	None	None	None	None	N
T/N	0.0671	likely_benign	0.0724	benign	-0.182	Destabilizing	0.044	N	0.24	neutral	None	None	None	None	N
T/P	0.0645	likely_benign	0.0681	benign	-0.133	Destabilizing	0.065	N	0.391	neutral	N	0.4469142	None	None	N
T/Q	0.0962	likely_benign	0.1087	benign	-0.294	Destabilizing	0.022	N	0.391	neutral	None	None	None	None	N
T/R	0.0775	likely_benign	0.0966	benign	0.032	Stabilizing	0.033	N	0.389	neutral	N	0.437929357	None	None	N
T/S	0.0746	likely_benign	0.0784	benign	-0.386	Destabilizing	0.006	N	0.175	neutral	N	0.420709034	None	None	N
T/V	0.0548	likely_benign	0.0607	benign	-0.133	Destabilizing	None	N	0.059	neutral	None	None	None	None	N
T/W	0.2786	likely_benign	0.3444	ambiguous	-0.923	Destabilizing	0.497	N	0.398	neutral	None	None	None	None	N
T/Y	0.1115	likely_benign	0.1347	benign	-0.59	Destabilizing	0.085	N	0.443	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.