TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	3977	12154;12155;12156	chr2:178741304;178741303;178741302	chr2:179606031;179606030;179606029
N2AB	3660	11203;11204;11205	chr2:178741304;178741303;178741302	chr2:179606031;179606030;179606029
N2A	None	None	chr2:None	chr2:None
N2B	3614	11065;11066;11067	chr2:178741304;178741303;178741302	chr2:179606031;179606030;179606029
Novex-1	3739	11440;11441;11442	chr2:178741304;178741303;178741302	chr2:179606031;179606030;179606029
Novex-2	3806	11641;11642;11643	chr2:178741304;178741303;178741302	chr2:179606031;179606030;179606029
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-28
• Domain position: 40
• Structural Position: 56
• Q(SASA): 0.7004
• 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/R	None	None	0.001	N	0.153	0.102	None	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	None	0	0	None	0	0	0	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	0.2029	likely_benign	0.1896	benign	-0.361	Destabilizing	0.055	N	0.3	neutral	None	None	None	None	N
Q/C	0.5862	likely_pathogenic	0.567	pathogenic	0.039	Stabilizing	0.958	D	0.275	neutral	None	None	None	None	N
Q/D	0.4956	ambiguous	0.4264	ambiguous	0.162	Stabilizing	0.055	N	0.242	neutral	None	None	None	None	N
Q/E	0.0979	likely_benign	0.084	benign	0.195	Stabilizing	None	N	0.151	neutral	N	0.439093762	None	None	N
Q/F	0.6543	likely_pathogenic	0.6143	pathogenic	-0.304	Destabilizing	0.859	D	0.293	neutral	None	None	None	None	N
Q/G	0.3683	ambiguous	0.3288	benign	-0.62	Destabilizing	0.104	N	0.349	neutral	None	None	None	None	N
Q/H	0.2594	likely_benign	0.2348	benign	-0.276	Destabilizing	0.602	D	0.299	neutral	N	0.513488721	None	None	N
Q/I	0.2926	likely_benign	0.2699	benign	0.257	Stabilizing	0.667	D	0.32	neutral	None	None	None	None	N
Q/K	0.0903	likely_benign	0.0946	benign	-0.031	Destabilizing	None	N	0.143	neutral	N	0.496734259	None	None	N
Q/L	0.1163	likely_benign	0.1106	benign	0.257	Stabilizing	0.175	N	0.349	neutral	N	0.496613234	None	None	N
Q/M	0.305	likely_benign	0.2906	benign	0.331	Stabilizing	0.859	D	0.311	neutral	None	None	None	None	N
Q/N	0.3472	ambiguous	0.3204	benign	-0.475	Destabilizing	0.22	N	0.213	neutral	None	None	None	None	N
Q/P	0.0867	likely_benign	0.0842	benign	0.081	Stabilizing	None	N	0.149	neutral	N	0.442373759	None	None	N
Q/R	0.1145	likely_benign	0.1099	benign	0.136	Stabilizing	0.001	N	0.153	neutral	N	0.501731976	None	None	N
Q/S	0.287	likely_benign	0.263	benign	-0.538	Destabilizing	0.055	N	0.256	neutral	None	None	None	None	N
Q/T	0.213	likely_benign	0.1964	benign	-0.329	Destabilizing	0.22	N	0.315	neutral	None	None	None	None	N
Q/V	0.2248	likely_benign	0.204	benign	0.081	Stabilizing	0.22	N	0.34	neutral	None	None	None	None	N
Q/W	0.5584	ambiguous	0.5068	ambiguous	-0.242	Destabilizing	0.958	D	0.293	neutral	None	None	None	None	N
Q/Y	0.4643	ambiguous	0.4291	ambiguous	-0.007	Destabilizing	0.859	D	0.302	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.