TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18801	56626;56627;56628	chr2:178599392;178599391;178599390	chr2:179464119;179464118;179464117
N2AB	17160	51703;51704;51705	chr2:178599392;178599391;178599390	chr2:179464119;179464118;179464117
N2A	16233	48922;48923;48924	chr2:178599392;178599391;178599390	chr2:179464119;179464118;179464117
N2B	9736	29431;29432;29433	chr2:178599392;178599391;178599390	chr2:179464119;179464118;179464117
Novex-1	9861	29806;29807;29808	chr2:178599392;178599391;178599390	chr2:179464119;179464118;179464117
Novex-2	9928	30007;30008;30009	chr2:178599392;178599391;178599390	chr2:179464119;179464118;179464117
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Fn3-24
• Domain position: 18
• Structural Position: 19
• Q(SASA): 0.3398
• 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
Q/H	None	None	0.003	N	0.153	0.065	0.141422826196	gnomAD-4.0.0	6.96302E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.24614E-05	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	0.2327	likely_benign	0.253	benign	-0.366	Destabilizing	0.2	N	0.272	neutral	None	None	None	None	N
Q/C	0.4559	ambiguous	0.4469	ambiguous	-0.11	Destabilizing	0.991	D	0.526	neutral	None	None	None	None	N
Q/D	0.4864	ambiguous	0.5284	ambiguous	-1.359	Destabilizing	0.111	N	0.227	neutral	None	None	None	None	N
Q/E	0.1093	likely_benign	0.1136	benign	-1.284	Destabilizing	0.001	N	0.085	neutral	N	0.413948925	None	None	N
Q/F	0.5793	likely_pathogenic	0.5816	pathogenic	-0.416	Destabilizing	0.908	D	0.625	neutral	None	None	None	None	N
Q/G	0.2995	likely_benign	0.3168	benign	-0.676	Destabilizing	0.111	N	0.306	neutral	None	None	None	None	N
Q/H	0.1604	likely_benign	0.1693	benign	-0.849	Destabilizing	0.003	N	0.153	neutral	N	0.421435044	None	None	N
Q/I	0.4081	ambiguous	0.4312	ambiguous	0.402	Stabilizing	0.738	D	0.619	neutral	None	None	None	None	N
Q/K	0.1102	likely_benign	0.1154	benign	-0.227	Destabilizing	0.001	N	0.098	neutral	N	0.434862915	None	None	N
Q/L	0.171	likely_benign	0.1798	benign	0.402	Stabilizing	0.302	N	0.359	neutral	N	0.52073246	None	None	N
Q/M	0.295	likely_benign	0.309	benign	0.874	Stabilizing	0.968	D	0.434	neutral	None	None	None	None	N
Q/N	0.2949	likely_benign	0.3006	benign	-0.852	Destabilizing	0.001	N	0.067	neutral	None	None	None	None	N
Q/P	0.9384	likely_pathogenic	0.9495	pathogenic	0.177	Stabilizing	0.68	D	0.511	neutral	N	0.52073246	None	None	N
Q/R	0.1108	likely_benign	0.1154	benign	-0.158	Destabilizing	None	N	0.062	neutral	N	0.399288903	None	None	N
Q/S	0.2124	likely_benign	0.2174	benign	-0.824	Destabilizing	0.111	N	0.215	neutral	None	None	None	None	N
Q/T	0.1668	likely_benign	0.1776	benign	-0.577	Destabilizing	0.365	N	0.363	neutral	None	None	None	None	N
Q/V	0.2593	likely_benign	0.2778	benign	0.177	Stabilizing	0.738	D	0.473	neutral	None	None	None	None	N
Q/W	0.5752	likely_pathogenic	0.6018	pathogenic	-0.411	Destabilizing	0.991	D	0.545	neutral	None	None	None	None	N
Q/Y	0.3705	ambiguous	0.3575	ambiguous	-0.055	Destabilizing	0.582	D	0.586	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.