TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4630	14113;14114;14115	chr2:178739345;178739344;178739343	chr2:179604072;179604071;179604070
N2AB	4313	13162;13163;13164	chr2:178739345;178739344;178739343	chr2:179604072;179604071;179604070
N2A	None	None	chr2:None	chr2:None
N2B	4267	13024;13025;13026	chr2:178739345;178739344;178739343	chr2:179604072;179604071;179604070
Novex-1	4392	13399;13400;13401	chr2:178739345;178739344;178739343	chr2:179604072;179604071;179604070
Novex-2	4459	13600;13601;13602	chr2:178739345;178739344;178739343	chr2:179604072;179604071;179604070
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: Ig-29
• Domain position: 25
• Structural Position: 38
• Q(SASA): 0.3343
• 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	rs766878814	0.262	None	N	0.169	0.09	None	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.89E-06	0
T/I	rs766878814	0.262	None	N	0.169	0.09	None	gnomAD-4.0.0	1.59128E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85806E-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	0.0822	likely_benign	0.0927	benign	-0.818	Destabilizing	None	N	0.067	neutral	N	0.506839445	None	None	N
T/C	0.3366	likely_benign	0.3647	ambiguous	-0.342	Destabilizing	0.356	N	0.274	neutral	None	None	None	None	N
T/D	0.2291	likely_benign	0.2741	benign	-0.827	Destabilizing	0.038	N	0.285	neutral	None	None	None	None	N
T/E	0.1676	likely_benign	0.2038	benign	-0.788	Destabilizing	None	N	0.169	neutral	None	None	None	None	N
T/F	0.1881	likely_benign	0.2184	benign	-0.632	Destabilizing	0.12	N	0.401	neutral	None	None	None	None	N
T/G	0.1893	likely_benign	0.2219	benign	-1.136	Destabilizing	0.016	N	0.261	neutral	None	None	None	None	N
T/H	0.1902	likely_benign	0.2189	benign	-1.422	Destabilizing	0.356	N	0.325	neutral	None	None	None	None	N
T/I	0.1231	likely_benign	0.1514	benign	-0.039	Destabilizing	None	N	0.169	neutral	N	0.508027882	None	None	N
T/K	0.1297	likely_benign	0.1492	benign	-1.012	Destabilizing	0.001	N	0.179	neutral	N	0.504380746	None	None	N
T/L	0.0932	likely_benign	0.1103	benign	-0.039	Destabilizing	None	N	0.117	neutral	None	None	None	None	N
T/M	0.0969	likely_benign	0.1064	benign	0.324	Stabilizing	0.002	N	0.188	neutral	None	None	None	None	N
T/N	0.1086	likely_benign	0.1264	benign	-1.011	Destabilizing	0.038	N	0.195	neutral	None	None	None	None	N
T/P	0.2142	likely_benign	0.2789	benign	-0.266	Destabilizing	0.055	N	0.325	neutral	D	0.607771589	None	None	N
T/Q	0.1561	likely_benign	0.1782	benign	-1.068	Destabilizing	0.038	N	0.331	neutral	None	None	None	None	N
T/R	0.1071	likely_benign	0.1225	benign	-0.832	Destabilizing	None	N	0.17	neutral	N	0.507557267	None	None	N
T/S	0.096	likely_benign	0.1017	benign	-1.184	Destabilizing	None	N	0.13	neutral	N	0.45889649	None	None	N
T/V	0.1223	likely_benign	0.1427	benign	-0.266	Destabilizing	0.006	N	0.207	neutral	None	None	None	None	N
T/W	0.4211	ambiguous	0.4734	ambiguous	-0.673	Destabilizing	0.864	D	0.326	neutral	None	None	None	None	N
T/Y	0.2177	likely_benign	0.2462	benign	-0.461	Destabilizing	0.356	N	0.361	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.