TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29216	87871;87872;87873	chr2:178557708;178557707;178557706	chr2:179422435;179422434;179422433
N2AB	27575	82948;82949;82950	chr2:178557708;178557707;178557706	chr2:179422435;179422434;179422433
N2A	26648	80167;80168;80169	chr2:178557708;178557707;178557706	chr2:179422435;179422434;179422433
N2B	20151	60676;60677;60678	chr2:178557708;178557707;178557706	chr2:179422435;179422434;179422433
Novex-1	20276	61051;61052;61053	chr2:178557708;178557707;178557706	chr2:179422435;179422434;179422433
Novex-2	20343	61252;61253;61254	chr2:178557708;178557707;178557706	chr2:179422435;179422434;179422433
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Fn3-100
• Domain position: 80
• Structural Position: 112
• Q(SASA): 0.0807
• 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	1.0	D	0.767	0.561	0.350746614512	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-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	0.9991	likely_pathogenic	0.9994	pathogenic	-0.756	Destabilizing	1.0	D	0.827	deleterious	None	None	None	None	N
N/C	0.984	likely_pathogenic	0.9873	pathogenic	-0.628	Destabilizing	1.0	D	0.841	deleterious	None	None	None	None	N
N/D	0.9914	likely_pathogenic	0.9937	pathogenic	-2.254	Highly Destabilizing	0.999	D	0.626	neutral	D	0.538819644	None	None	N
N/E	0.9992	likely_pathogenic	0.9994	pathogenic	-2.077	Highly Destabilizing	0.999	D	0.743	deleterious	None	None	None	None	N
N/F	0.9998	likely_pathogenic	0.9998	pathogenic	-0.677	Destabilizing	1.0	D	0.879	deleterious	None	None	None	None	N
N/G	0.9938	likely_pathogenic	0.995	pathogenic	-1.065	Destabilizing	0.999	D	0.595	neutral	None	None	None	None	N
N/H	0.9932	likely_pathogenic	0.9954	pathogenic	-0.785	Destabilizing	1.0	D	0.779	deleterious	D	0.563306681	None	None	N
N/I	0.9981	likely_pathogenic	0.9986	pathogenic	0.033	Stabilizing	1.0	D	0.849	deleterious	D	0.563560171	None	None	N
N/K	0.9992	likely_pathogenic	0.9994	pathogenic	-0.245	Destabilizing	1.0	D	0.767	deleterious	D	0.562292723	None	None	N
N/L	0.9942	likely_pathogenic	0.9957	pathogenic	0.033	Stabilizing	1.0	D	0.839	deleterious	None	None	None	None	N
N/M	0.9971	likely_pathogenic	0.9981	pathogenic	0.213	Stabilizing	1.0	D	0.873	deleterious	None	None	None	None	N
N/P	0.9996	likely_pathogenic	0.9996	pathogenic	-0.203	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	N
N/Q	0.9994	likely_pathogenic	0.9996	pathogenic	-1.116	Destabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
N/R	0.9991	likely_pathogenic	0.9993	pathogenic	-0.255	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	N
N/S	0.9482	likely_pathogenic	0.9647	pathogenic	-1.091	Destabilizing	0.999	D	0.61	neutral	N	0.51608058	None	None	N
N/T	0.9865	likely_pathogenic	0.9906	pathogenic	-0.763	Destabilizing	0.999	D	0.734	prob.delet.	N	0.521939475	None	None	N
N/V	0.9976	likely_pathogenic	0.9984	pathogenic	-0.203	Destabilizing	1.0	D	0.856	deleterious	None	None	None	None	N
N/W	0.9999	likely_pathogenic	0.9999	pathogenic	-0.708	Destabilizing	1.0	D	0.841	deleterious	None	None	None	None	N
N/Y	0.9956	likely_pathogenic	0.9967	pathogenic	-0.264	Destabilizing	1.0	D	0.865	deleterious	D	0.563306681	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.