TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8964	27115;27116;27117	chr2:178713244;178713243;178713242	chr2:179577971;179577970;179577969
N2AB	8647	26164;26165;26166	chr2:178713244;178713243;178713242	chr2:179577971;179577970;179577969
N2A	7720	23383;23384;23385	chr2:178713244;178713243;178713242	chr2:179577971;179577970;179577969
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-75
• Domain position: 39
• Structural Position: 55
• Q(SASA): 0.6182
• 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
N/K	None	None	0.001	N	0.139	0.082	0.0297737177859	gnomAD-4.0.0	7.53702E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	9.90827E-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
N/A	0.1375	likely_benign	0.1437	benign	-0.319	Destabilizing	0.129	N	0.309	neutral	None	None	None	None	N
N/C	0.1801	likely_benign	0.201	benign	0.208	Stabilizing	0.983	D	0.311	neutral	None	None	None	None	N
N/D	0.1058	likely_benign	0.1152	benign	0.277	Stabilizing	0.001	N	0.145	neutral	N	0.457252277	None	None	N
N/E	0.1483	likely_benign	0.1486	benign	0.263	Stabilizing	0.004	N	0.117	neutral	None	None	None	None	N
N/F	0.2866	likely_benign	0.3182	benign	-0.684	Destabilizing	0.557	D	0.383	neutral	None	None	None	None	N
N/G	0.2157	likely_benign	0.2252	benign	-0.503	Destabilizing	0.129	N	0.193	neutral	None	None	None	None	N
N/H	0.0673	likely_benign	0.0649	benign	-0.444	Destabilizing	0.655	D	0.281	neutral	N	0.473125806	None	None	N
N/I	0.1068	likely_benign	0.1154	benign	0.076	Stabilizing	0.655	D	0.401	neutral	N	0.463967605	None	None	N
N/K	0.0938	likely_benign	0.0987	benign	0.095	Stabilizing	0.001	N	0.139	neutral	N	0.376788551	None	None	N
N/L	0.144	likely_benign	0.1455	benign	0.076	Stabilizing	0.264	N	0.375	neutral	None	None	None	None	N
N/M	0.1731	likely_benign	0.1773	benign	0.175	Stabilizing	0.836	D	0.331	neutral	None	None	None	None	N
N/P	0.7414	likely_pathogenic	0.7572	pathogenic	-0.028	Destabilizing	0.593	D	0.409	neutral	None	None	None	None	N
N/Q	0.1295	likely_benign	0.1236	benign	-0.341	Destabilizing	0.004	N	0.138	neutral	None	None	None	None	N
N/R	0.1061	likely_benign	0.1059	benign	0.123	Stabilizing	0.264	N	0.195	neutral	None	None	None	None	N
N/S	0.0735	likely_benign	0.0743	benign	-0.208	Destabilizing	0.007	N	0.14	neutral	N	0.424136994	None	None	N
N/T	0.0796	likely_benign	0.0804	benign	-0.07	Destabilizing	0.101	N	0.202	neutral	N	0.434279416	None	None	N
N/V	0.1173	likely_benign	0.1221	benign	-0.028	Destabilizing	0.418	N	0.403	neutral	None	None	None	None	N
N/W	0.4877	ambiguous	0.499	ambiguous	-0.702	Destabilizing	0.951	D	0.319	neutral	None	None	None	None	N
N/Y	0.1014	likely_benign	0.1089	benign	-0.414	Destabilizing	0.002	N	0.233	neutral	N	0.490711489	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.