TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	35333	106222;106223;106224	chr2:178530618;178530617;178530616	chr2:179395345;179395344;179395343
N2AB	33692	101299;101300;101301	chr2:178530618;178530617;178530616	chr2:179395345;179395344;179395343
N2A	32765	98518;98519;98520	chr2:178530618;178530617;178530616	chr2:179395345;179395344;179395343
N2B	26268	79027;79028;79029	chr2:178530618;178530617;178530616	chr2:179395345;179395344;179395343
Novex-1	26393	79402;79403;79404	chr2:178530618;178530617;178530616	chr2:179395345;179395344;179395343
Novex-2	26460	79603;79604;79605	chr2:178530618;178530617;178530616	chr2:179395345;179395344;179395343
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-165
• Domain position: 48
• Structural Position: 122
• Q(SASA): 0.3915
• 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	rs764231632	None	0.975	N	0.39	0.236	0.399596177874	gnomAD-4.0.0	8.8938E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.07927E-05	0	1.6564E-05

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	0.3259	likely_benign	0.2931	benign	-0.726	Destabilizing	0.329	N	0.361	neutral	None	None	None	None	N
Q/C	0.657	likely_pathogenic	0.6223	pathogenic	-0.297	Destabilizing	0.995	D	0.472	neutral	None	None	None	None	N
Q/D	0.5291	ambiguous	0.4769	ambiguous	-1.521	Destabilizing	0.329	N	0.287	neutral	None	None	None	None	N
Q/E	0.1083	likely_benign	0.1028	benign	-1.327	Destabilizing	0.003	N	0.099	neutral	N	0.480417138	None	None	N
Q/F	0.7513	likely_pathogenic	0.7259	pathogenic	-0.297	Destabilizing	0.981	D	0.488	neutral	None	None	None	None	N
Q/G	0.4658	ambiguous	0.4131	ambiguous	-1.154	Destabilizing	0.329	N	0.384	neutral	None	None	None	None	N
Q/H	0.2348	likely_benign	0.2194	benign	-1.033	Destabilizing	0.975	D	0.39	neutral	N	0.498946971	None	None	N
Q/I	0.3705	ambiguous	0.3471	ambiguous	0.408	Stabilizing	0.944	D	0.481	neutral	None	None	None	None	N
Q/K	0.1173	likely_benign	0.1123	benign	-0.523	Destabilizing	0.002	N	0.111	neutral	N	0.469237352	None	None	N
Q/L	0.17	likely_benign	0.1551	benign	0.408	Stabilizing	0.642	D	0.404	neutral	N	0.514319068	None	None	N
Q/M	0.4546	ambiguous	0.4348	ambiguous	0.795	Stabilizing	0.981	D	0.396	neutral	None	None	None	None	N
Q/N	0.3871	ambiguous	0.3518	ambiguous	-1.322	Destabilizing	0.704	D	0.24	neutral	None	None	None	None	N
Q/P	0.6625	likely_pathogenic	0.5734	pathogenic	0.061	Stabilizing	0.784	D	0.395	neutral	N	0.498267311	None	None	N
Q/R	0.1314	likely_benign	0.1244	benign	-0.614	Destabilizing	0.473	N	0.288	neutral	N	0.475125961	None	None	N
Q/S	0.328	likely_benign	0.2867	benign	-1.422	Destabilizing	0.013	N	0.116	neutral	None	None	None	None	N
Q/T	0.2431	likely_benign	0.2199	benign	-1.029	Destabilizing	0.543	D	0.37	neutral	None	None	None	None	N
Q/V	0.302	likely_benign	0.2817	benign	0.061	Stabilizing	0.704	D	0.399	neutral	None	None	None	None	N
Q/W	0.6434	likely_pathogenic	0.5889	pathogenic	-0.315	Destabilizing	0.995	D	0.47	neutral	None	None	None	None	N
Q/Y	0.5326	ambiguous	0.4965	ambiguous	0.022	Stabilizing	0.981	D	0.413	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.