TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18395	55408;55409;55410	chr2:178602088;178602087;178602086	chr2:179466815;179466814;179466813
N2AB	16754	50485;50486;50487	chr2:178602088;178602087;178602086	chr2:179466815;179466814;179466813
N2A	15827	47704;47705;47706	chr2:178602088;178602087;178602086	chr2:179466815;179466814;179466813
N2B	9330	28213;28214;28215	chr2:178602088;178602087;178602086	chr2:179466815;179466814;179466813
Novex-1	9455	28588;28589;28590	chr2:178602088;178602087;178602086	chr2:179466815;179466814;179466813
Novex-2	9522	28789;28790;28791	chr2:178602088;178602087;178602086	chr2:179466815;179466814;179466813
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-115
• Domain position: 14
• Structural Position: 26
• Q(SASA): 0.7438
• Predicted PPI site: I

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
Q/K	None	None	0.166	N	0.22	0.109	0.0611884634855	gnomAD-4.0.0	1.59377E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.86243E-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
Q/A	0.1368	likely_benign	0.126	benign	-0.554	Destabilizing	0.103	N	0.19	neutral	None	None	None	None	I
Q/C	0.5168	ambiguous	0.4706	ambiguous	0.002	Stabilizing	0.991	D	0.231	neutral	None	None	None	None	I
Q/D	0.307	likely_benign	0.2924	benign	-0.43	Destabilizing	0.209	N	0.209	neutral	None	None	None	None	I
Q/E	0.0857	likely_benign	0.0841	benign	-0.339	Destabilizing	0.001	N	0.104	neutral	N	0.41497514	None	None	I
Q/F	0.5639	ambiguous	0.549	ambiguous	-0.239	Destabilizing	0.901	D	0.301	neutral	None	None	None	None	I
Q/G	0.2517	likely_benign	0.2464	benign	-0.907	Destabilizing	0.345	N	0.252	neutral	None	None	None	None	I
Q/H	0.1935	likely_benign	0.1837	benign	-0.72	Destabilizing	0.873	D	0.309	neutral	N	0.465019958	None	None	I
Q/I	0.2641	likely_benign	0.2413	benign	0.34	Stabilizing	0.561	D	0.413	neutral	None	None	None	None	I
Q/K	0.1041	likely_benign	0.0989	benign	-0.392	Destabilizing	0.166	N	0.22	neutral	N	0.388924689	None	None	I
Q/L	0.1245	likely_benign	0.1154	benign	0.34	Stabilizing	0.166	N	0.262	neutral	N	0.427232361	None	None	I
Q/M	0.2346	likely_benign	0.2213	benign	0.669	Stabilizing	0.965	D	0.313	neutral	None	None	None	None	I
Q/N	0.1994	likely_benign	0.1904	benign	-0.929	Destabilizing	0.345	N	0.243	neutral	None	None	None	None	I
Q/P	0.0966	likely_benign	0.0937	benign	0.073	Stabilizing	None	N	0.122	neutral	N	0.362546164	None	None	I
Q/R	0.1256	likely_benign	0.1181	benign	-0.324	Destabilizing	0.285	N	0.261	neutral	N	0.426712286	None	None	I
Q/S	0.137	likely_benign	0.1261	benign	-0.991	Destabilizing	0.103	N	0.189	neutral	None	None	None	None	I
Q/T	0.0938	likely_benign	0.0867	benign	-0.708	Destabilizing	0.002	N	0.135	neutral	None	None	None	None	I
Q/V	0.1533	likely_benign	0.1392	benign	0.073	Stabilizing	0.209	N	0.268	neutral	None	None	None	None	I
Q/W	0.5619	ambiguous	0.5609	ambiguous	-0.153	Destabilizing	0.991	D	0.247	neutral	None	None	None	None	I
Q/Y	0.4025	ambiguous	0.3903	ambiguous	0.064	Stabilizing	0.965	D	0.339	neutral	None	None	None	None	I

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.