TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15080	45463;45464;45465	chr2:178621586;178621585;178621584	chr2:179486313;179486312;179486311
N2AB	13439	40540;40541;40542	chr2:178621586;178621585;178621584	chr2:179486313;179486312;179486311
N2A	12512	37759;37760;37761	chr2:178621586;178621585;178621584	chr2:179486313;179486312;179486311
N2B	6015	18268;18269;18270	chr2:178621586;178621585;178621584	chr2:179486313;179486312;179486311
Novex-1	6140	18643;18644;18645	chr2:178621586;178621585;178621584	chr2:179486313;179486312;179486311
Novex-2	6207	18844;18845;18846	chr2:178621586;178621585;178621584	chr2:179486313;179486312;179486311
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-102
• Domain position: 50
• Structural Position: 127
• Q(SASA): 0.5206
• 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/I	None	None	0.096	N	0.469	0.093	0.262175524916	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
T/A	0.0715	likely_benign	0.0748	benign	-0.582	Destabilizing	None	N	0.224	neutral	N	0.445992301	None	None	N
T/C	0.3611	ambiguous	0.4549	ambiguous	-0.407	Destabilizing	0.667	D	0.501	neutral	None	None	None	None	N
T/D	0.2587	likely_benign	0.2943	benign	0.281	Stabilizing	0.22	N	0.474	neutral	None	None	None	None	N
T/E	0.2063	likely_benign	0.2232	benign	0.244	Stabilizing	0.124	N	0.471	neutral	None	None	None	None	N
T/F	0.2161	likely_benign	0.236	benign	-0.857	Destabilizing	0.331	N	0.583	neutral	None	None	None	None	N
T/G	0.1832	likely_benign	0.2159	benign	-0.778	Destabilizing	0.055	N	0.563	neutral	None	None	None	None	N
T/H	0.2091	likely_benign	0.2269	benign	-1.049	Destabilizing	0.667	D	0.579	neutral	None	None	None	None	N
T/I	0.1452	likely_benign	0.137	benign	-0.172	Destabilizing	0.096	N	0.469	neutral	N	0.511568433	None	None	N
T/K	0.1735	likely_benign	0.1743	benign	-0.467	Destabilizing	0.001	N	0.341	neutral	None	None	None	None	N
T/L	0.0931	likely_benign	0.092	benign	-0.172	Destabilizing	0.055	N	0.487	neutral	None	None	None	None	N
T/M	0.0928	likely_benign	0.0913	benign	0.004	Stabilizing	0.667	D	0.515	neutral	None	None	None	None	N
T/N	0.1033	likely_benign	0.1046	benign	-0.326	Destabilizing	0.096	N	0.429	neutral	N	0.484521304	None	None	N
T/P	0.1143	likely_benign	0.1124	benign	-0.278	Destabilizing	0.301	N	0.513	neutral	N	0.489472042	None	None	N
T/Q	0.1705	likely_benign	0.1857	benign	-0.511	Destabilizing	0.497	N	0.524	neutral	None	None	None	None	N
T/R	0.1393	likely_benign	0.1421	benign	-0.239	Destabilizing	0.124	N	0.512	neutral	None	None	None	None	N
T/S	0.0908	likely_benign	0.0989	benign	-0.624	Destabilizing	0.001	N	0.235	neutral	N	0.440304439	None	None	N
T/V	0.1214	likely_benign	0.1285	benign	-0.278	Destabilizing	None	N	0.225	neutral	None	None	None	None	N
T/W	0.4685	ambiguous	0.5445	ambiguous	-0.798	Destabilizing	0.958	D	0.563	neutral	None	None	None	None	N
T/Y	0.2421	likely_benign	0.2782	benign	-0.544	Destabilizing	0.004	N	0.475	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.