TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29249	87970;87971;87972	chr2:178557517;178557516;178557515	chr2:179422244;179422243;179422242
N2AB	27608	83047;83048;83049	chr2:178557517;178557516;178557515	chr2:179422244;179422243;179422242
N2A	26681	80266;80267;80268	chr2:178557517;178557516;178557515	chr2:179422244;179422243;179422242
N2B	20184	60775;60776;60777	chr2:178557517;178557516;178557515	chr2:179422244;179422243;179422242
Novex-1	20309	61150;61151;61152	chr2:178557517;178557516;178557515	chr2:179422244;179422243;179422242
Novex-2	20376	61351;61352;61353	chr2:178557517;178557516;178557515	chr2:179422244;179422243;179422242
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: V
• RefSeq wild type transcript codon: GTT
• RefSeq wild type template codon: CAA
• Domain: Fn3-101
• Domain position: 13
• Structural Position: 15
• Q(SASA): 0.2386
• Predicted PPI site: I

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
V/I	None	None	0.656	N	0.473	0.188	0.387850303812	gnomAD-4.0.0	1.59113E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85778E-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
V/A	0.3491	ambiguous	0.3035	benign	-1.325	Destabilizing	0.014	N	0.236	neutral	N	0.465092608	None	None	I
V/C	0.8033	likely_pathogenic	0.78	pathogenic	-1.294	Destabilizing	0.994	D	0.717	prob.delet.	None	None	None	None	I
V/D	0.9076	likely_pathogenic	0.8849	pathogenic	-1.271	Destabilizing	0.971	D	0.797	deleterious	D	0.524395011	None	None	I
V/E	0.8142	likely_pathogenic	0.7719	pathogenic	-1.305	Destabilizing	0.956	D	0.747	deleterious	None	None	None	None	I
V/F	0.5147	ambiguous	0.496	ambiguous	-1.373	Destabilizing	0.971	D	0.739	prob.delet.	N	0.477933059	None	None	I
V/G	0.5846	likely_pathogenic	0.5432	ambiguous	-1.579	Destabilizing	0.89	D	0.711	prob.delet.	N	0.507304714	None	None	I
V/H	0.9144	likely_pathogenic	0.8969	pathogenic	-1.161	Destabilizing	0.998	D	0.795	deleterious	None	None	None	None	I
V/I	0.0978	likely_benign	0.0948	benign	-0.746	Destabilizing	0.656	D	0.473	neutral	N	0.500914548	None	None	I
V/K	0.8151	likely_pathogenic	0.7679	pathogenic	-0.96	Destabilizing	0.956	D	0.751	deleterious	None	None	None	None	I
V/L	0.6154	likely_pathogenic	0.5822	pathogenic	-0.746	Destabilizing	0.489	N	0.449	neutral	N	0.520156457	None	None	I
V/M	0.3551	ambiguous	0.3364	benign	-0.666	Destabilizing	0.993	D	0.651	neutral	None	None	None	None	I
V/N	0.7697	likely_pathogenic	0.716	pathogenic	-0.812	Destabilizing	0.978	D	0.802	deleterious	None	None	None	None	I
V/P	0.9092	likely_pathogenic	0.884	pathogenic	-0.906	Destabilizing	0.978	D	0.761	deleterious	None	None	None	None	I
V/Q	0.7519	likely_pathogenic	0.7098	pathogenic	-1.064	Destabilizing	0.978	D	0.772	deleterious	None	None	None	None	I
V/R	0.7508	likely_pathogenic	0.7151	pathogenic	-0.482	Destabilizing	0.956	D	0.806	deleterious	None	None	None	None	I
V/S	0.5601	ambiguous	0.4935	ambiguous	-1.324	Destabilizing	0.915	D	0.672	neutral	None	None	None	None	I
V/T	0.3821	ambiguous	0.32	benign	-1.25	Destabilizing	0.86	D	0.455	neutral	None	None	None	None	I
V/W	0.9735	likely_pathogenic	0.9688	pathogenic	-1.476	Destabilizing	0.998	D	0.796	deleterious	None	None	None	None	I
V/Y	0.8722	likely_pathogenic	0.8571	pathogenic	-1.14	Destabilizing	0.993	D	0.741	deleterious	None	None	None	None	I

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.