TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7272	22039;22040;22041	chr2:178723193;178723192;178723191	chr2:179587920;179587919;179587918
N2AB	6955	21088;21089;21090	chr2:178723193;178723192;178723191	chr2:179587920;179587919;179587918
N2A	6028	18307;18308;18309	chr2:178723193;178723192;178723191	chr2:179587920;179587919;179587918
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: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-57
• Domain position: 43
• Structural Position: 70
• Q(SASA): 0.6052
• 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/A	rs747710632	-0.238	None	N	0.119	0.117	0.0297737177859	gnomAD-2.1.1	8.07E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	4.65E-05	8.93E-06	0
T/A	rs747710632	-0.238	None	N	0.119	0.117	0.0297737177859	gnomAD-4.0.0	6.36776E-06	None	None	None	None	N	None	0	0	None	0	0	None	5.65121E-05	0	2.85928E-06	0	0
T/S	None	None	None	N	0.092	0.088	0.0666544352282	gnomAD-4.0.0	1.59194E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85928E-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	0.0557	likely_benign	0.0578	benign	-0.346	Destabilizing	None	N	0.119	neutral	N	0.385698823	None	None	N
T/C	0.2599	likely_benign	0.264	benign	-0.179	Destabilizing	0.245	N	0.327	neutral	None	None	None	None	N
T/D	0.184	likely_benign	0.1811	benign	0.112	Stabilizing	0.018	N	0.303	neutral	None	None	None	None	N
T/E	0.1218	likely_benign	0.124	benign	0.023	Stabilizing	0.004	N	0.223	neutral	None	None	None	None	N
T/F	0.1507	likely_benign	0.1637	benign	-0.945	Destabilizing	0.245	N	0.461	neutral	None	None	None	None	N
T/G	0.1204	likely_benign	0.1235	benign	-0.444	Destabilizing	0.004	N	0.236	neutral	None	None	None	None	N
T/H	0.1076	likely_benign	0.1102	benign	-0.812	Destabilizing	0.138	N	0.388	neutral	None	None	None	None	N
T/I	0.1018	likely_benign	0.1146	benign	-0.208	Destabilizing	0.033	N	0.334	neutral	N	0.478667699	None	None	N
T/K	0.0936	likely_benign	0.0955	benign	-0.302	Destabilizing	0.004	N	0.279	neutral	None	None	None	None	N
T/L	0.0702	likely_benign	0.0717	benign	-0.208	Destabilizing	0.009	N	0.295	neutral	None	None	None	None	N
T/M	0.0762	likely_benign	0.0821	benign	0.042	Stabilizing	0.245	N	0.325	neutral	None	None	None	None	N
T/N	0.0839	likely_benign	0.0836	benign	-0.053	Destabilizing	0.007	N	0.169	neutral	N	0.435780926	None	None	N
T/P	0.0492	likely_benign	0.047	benign	-0.228	Destabilizing	None	N	0.119	neutral	N	0.378330133	None	None	N
T/Q	0.0809	likely_benign	0.0827	benign	-0.303	Destabilizing	None	N	0.12	neutral	None	None	None	None	N
T/R	0.076	likely_benign	0.0778	benign	-0.059	Destabilizing	0.009	N	0.3	neutral	None	None	None	None	N
T/S	0.0745	likely_benign	0.076	benign	-0.237	Destabilizing	None	N	0.092	neutral	N	0.408591538	None	None	N
T/V	0.0929	likely_benign	0.0995	benign	-0.228	Destabilizing	0.009	N	0.197	neutral	None	None	None	None	N
T/W	0.3273	likely_benign	0.3407	ambiguous	-0.968	Destabilizing	0.788	D	0.366	neutral	None	None	None	None	N
T/Y	0.1442	likely_benign	0.1491	benign	-0.67	Destabilizing	0.085	N	0.451	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.