TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28907	86944;86945;86946	chr2:178559413;178559412;178559411	chr2:179424140;179424139;179424138
N2AB	27266	82021;82022;82023	chr2:178559413;178559412;178559411	chr2:179424140;179424139;179424138
N2A	26339	79240;79241;79242	chr2:178559413;178559412;178559411	chr2:179424140;179424139;179424138
N2B	19842	59749;59750;59751	chr2:178559413;178559412;178559411	chr2:179424140;179424139;179424138
Novex-1	19967	60124;60125;60126	chr2:178559413;178559412;178559411	chr2:179424140;179424139;179424138
Novex-2	20034	60325;60326;60327	chr2:178559413;178559412;178559411	chr2:179424140;179424139;179424138
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Fn3-98
• Domain position: 63
• Structural Position: 94
• Q(SASA): 0.3541
• 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
T/I	None	None	0.031	N	0.311	0.222	0.314716216878	gnomAD-4.0.0	5.47407E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	7.19638E-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
T/A	0.0647	likely_benign	0.0618	benign	-0.693	Destabilizing	0.174	N	0.468	neutral	N	0.47910792	None	None	N
T/C	0.2252	likely_benign	0.2329	benign	-0.432	Destabilizing	0.973	D	0.667	neutral	None	None	None	None	N
T/D	0.2511	likely_benign	0.2401	benign	0.239	Stabilizing	0.826	D	0.635	neutral	None	None	None	None	N
T/E	0.2296	likely_benign	0.2202	benign	0.215	Stabilizing	0.704	D	0.63	neutral	None	None	None	None	N
T/F	0.1777	likely_benign	0.1789	benign	-0.93	Destabilizing	0.906	D	0.744	deleterious	None	None	None	None	N
T/G	0.1139	likely_benign	0.1122	benign	-0.905	Destabilizing	0.404	N	0.65	neutral	None	None	None	None	N
T/H	0.1828	likely_benign	0.1856	benign	-1.09	Destabilizing	0.973	D	0.731	prob.delet.	None	None	None	None	N
T/I	0.1193	likely_benign	0.1107	benign	-0.236	Destabilizing	0.031	N	0.311	neutral	N	0.480375368	None	None	N
T/K	0.1795	likely_benign	0.1886	benign	-0.505	Destabilizing	0.704	D	0.625	neutral	None	None	None	None	N
T/L	0.0742	likely_benign	0.074	benign	-0.236	Destabilizing	0.218	N	0.496	neutral	None	None	None	None	N
T/M	0.0801	likely_benign	0.0794	benign	-0.045	Destabilizing	0.218	N	0.431	neutral	None	None	None	None	N
T/N	0.0799	likely_benign	0.0776	benign	-0.386	Destabilizing	0.642	D	0.528	neutral	N	0.469206419	None	None	N
T/P	0.0677	likely_benign	0.0705	benign	-0.357	Destabilizing	0.879	D	0.685	prob.neutral	N	0.51224905	None	None	N
T/Q	0.164	likely_benign	0.1675	benign	-0.549	Destabilizing	0.826	D	0.689	prob.neutral	None	None	None	None	N
T/R	0.173	likely_benign	0.1842	benign	-0.246	Destabilizing	0.826	D	0.687	prob.neutral	None	None	None	None	N
T/S	0.0735	likely_benign	0.0717	benign	-0.708	Destabilizing	0.003	N	0.329	neutral	N	0.46247359	None	None	N
T/V	0.0986	likely_benign	0.0949	benign	-0.357	Destabilizing	0.218	N	0.496	neutral	None	None	None	None	N
T/W	0.4396	ambiguous	0.4466	ambiguous	-0.862	Destabilizing	0.991	D	0.758	deleterious	None	None	None	None	N
T/Y	0.2067	likely_benign	0.2104	benign	-0.616	Destabilizing	0.906	D	0.753	deleterious	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.