TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29881	89866;89867;89868	chr2:178553259;178553258;178553257	chr2:179417986;179417985;179417984
N2AB	28240	84943;84944;84945	chr2:178553259;178553258;178553257	chr2:179417986;179417985;179417984
N2A	27313	82162;82163;82164	chr2:178553259;178553258;178553257	chr2:179417986;179417985;179417984
N2B	20816	62671;62672;62673	chr2:178553259;178553258;178553257	chr2:179417986;179417985;179417984
Novex-1	20941	63046;63047;63048	chr2:178553259;178553258;178553257	chr2:179417986;179417985;179417984
Novex-2	21008	63247;63248;63249	chr2:178553259;178553258;178553257	chr2:179417986;179417985;179417984
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-147
• Domain position: 40
• Structural Position: 69
• Q(SASA): 0.4987
• 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
G/S	None	None	None	N	0.163	0.049	0.0846915920261	gnomAD-4.0.0	1.59486E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85807E-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
G/A	0.0781	likely_benign	0.0778	benign	-0.263	Destabilizing	0.001	N	0.16	neutral	N	0.40863161	None	None	N
G/C	0.1219	likely_benign	0.1224	benign	-0.877	Destabilizing	0.78	D	0.477	neutral	N	0.499426973	None	None	N
G/D	0.1444	likely_benign	0.1457	benign	-0.273	Destabilizing	0.062	N	0.367	neutral	N	0.415424297	None	None	N
G/E	0.1327	likely_benign	0.1355	benign	-0.412	Destabilizing	0.081	N	0.418	neutral	None	None	None	None	N
G/F	0.3482	ambiguous	0.34	benign	-0.904	Destabilizing	0.555	D	0.48	neutral	None	None	None	None	N
G/H	0.206	likely_benign	0.218	benign	-0.598	Destabilizing	0.698	D	0.447	neutral	None	None	None	None	N
G/I	0.1176	likely_benign	0.1233	benign	-0.29	Destabilizing	0.38	N	0.462	neutral	None	None	None	None	N
G/K	0.2265	likely_benign	0.2413	benign	-0.745	Destabilizing	0.081	N	0.412	neutral	None	None	None	None	N
G/L	0.1817	likely_benign	0.1947	benign	-0.29	Destabilizing	0.149	N	0.44	neutral	None	None	None	None	N
G/M	0.2615	likely_benign	0.2797	benign	-0.417	Destabilizing	0.935	D	0.473	neutral	None	None	None	None	N
G/N	0.165	likely_benign	0.1683	benign	-0.404	Destabilizing	0.001	N	0.24	neutral	None	None	None	None	N
G/P	0.4139	ambiguous	0.4264	ambiguous	-0.245	Destabilizing	0.38	N	0.427	neutral	None	None	None	None	N
G/Q	0.1813	likely_benign	0.1928	benign	-0.624	Destabilizing	0.38	N	0.443	neutral	None	None	None	None	N
G/R	0.1903	likely_benign	0.1952	benign	-0.401	Destabilizing	0.317	N	0.422	neutral	N	0.4115172	None	None	N
G/S	0.0735	likely_benign	0.0726	benign	-0.616	Destabilizing	None	N	0.163	neutral	N	0.392758081	None	None	N
G/T	0.08	likely_benign	0.0866	benign	-0.666	Destabilizing	0.002	N	0.325	neutral	None	None	None	None	N
G/V	0.0868	likely_benign	0.0886	benign	-0.245	Destabilizing	0.117	N	0.437	neutral	N	0.412712066	None	None	N
G/W	0.2825	likely_benign	0.284	benign	-1.1	Destabilizing	0.935	D	0.537	neutral	None	None	None	None	N
G/Y	0.2513	likely_benign	0.2404	benign	-0.719	Destabilizing	0.555	D	0.477	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.