TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18717	56374;56375;56376	chr2:178599752;178599751;178599750	chr2:179464479;179464478;179464477
N2AB	17076	51451;51452;51453	chr2:178599752;178599751;178599750	chr2:179464479;179464478;179464477
N2A	16149	48670;48671;48672	chr2:178599752;178599751;178599750	chr2:179464479;179464478;179464477
N2B	9652	29179;29180;29181	chr2:178599752;178599751;178599750	chr2:179464479;179464478;179464477
Novex-1	9777	29554;29555;29556	chr2:178599752;178599751;178599750	chr2:179464479;179464478;179464477
Novex-2	9844	29755;29756;29757	chr2:178599752;178599751;178599750	chr2:179464479;179464478;179464477
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-116
• Domain position: 30
• Structural Position: 47
• Q(SASA): 0.2332
• 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	rs794729460	0.605	0.885	D	0.603	0.338	0.442054744378	gnomAD-2.1.1	4.04E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.92E-06	0
T/I	rs794729460	0.605	0.885	D	0.603	0.338	0.442054744378	gnomAD-4.0.0	2.05405E-06	None	None	None	None	N	None	5.98587E-05	0	None	0	0	None	0	0	8.99878E-07	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	0.1133	likely_benign	0.1075	benign	-0.833	Destabilizing	0.863	D	0.545	neutral	N	0.494695685	None	None	N
T/C	0.4386	ambiguous	0.3851	ambiguous	-0.433	Destabilizing	0.999	D	0.661	neutral	None	None	None	None	N
T/D	0.4207	ambiguous	0.3529	ambiguous	-0.102	Destabilizing	0.986	D	0.621	neutral	None	None	None	None	N
T/E	0.2424	likely_benign	0.2188	benign	-0.016	Destabilizing	0.91	D	0.613	neutral	None	None	None	None	N
T/F	0.2707	likely_benign	0.2301	benign	-0.754	Destabilizing	0.993	D	0.722	prob.delet.	None	None	None	None	N
T/G	0.3645	ambiguous	0.3286	benign	-1.15	Destabilizing	0.986	D	0.654	neutral	None	None	None	None	N
T/H	0.2084	likely_benign	0.1704	benign	-1.157	Destabilizing	0.999	D	0.701	prob.neutral	None	None	None	None	N
T/I	0.1443	likely_benign	0.136	benign	-0.053	Destabilizing	0.885	D	0.603	neutral	D	0.5283658	None	None	N
T/K	0.1708	likely_benign	0.1409	benign	-0.418	Destabilizing	0.128	N	0.386	neutral	None	None	None	None	N
T/L	0.1029	likely_benign	0.0929	benign	-0.053	Destabilizing	0.91	D	0.553	neutral	None	None	None	None	N
T/M	0.1004	likely_benign	0.0948	benign	-0.071	Destabilizing	0.998	D	0.672	neutral	None	None	None	None	N
T/N	0.1279	likely_benign	0.1147	benign	-0.631	Destabilizing	0.982	D	0.549	neutral	N	0.501799256	None	None	N
T/P	0.7215	likely_pathogenic	0.5882	pathogenic	-0.281	Destabilizing	0.991	D	0.666	neutral	D	0.538768235	None	None	N
T/Q	0.1717	likely_benign	0.1538	benign	-0.581	Destabilizing	0.986	D	0.667	neutral	None	None	None	None	N
T/R	0.165	likely_benign	0.1315	benign	-0.334	Destabilizing	0.973	D	0.643	neutral	None	None	None	None	N
T/S	0.1132	likely_benign	0.1051	benign	-0.964	Destabilizing	0.939	D	0.537	neutral	N	0.504656648	None	None	N
T/V	0.135	likely_benign	0.1283	benign	-0.281	Destabilizing	0.214	N	0.413	neutral	None	None	None	None	N
T/W	0.6575	likely_pathogenic	0.5643	pathogenic	-0.789	Destabilizing	0.999	D	0.695	prob.neutral	None	None	None	None	N
T/Y	0.2746	likely_benign	0.2405	benign	-0.485	Destabilizing	0.998	D	0.727	prob.delet.	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.