TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29319	88180;88181;88182	chr2:178557307;178557306;178557305	chr2:179422034;179422033;179422032
N2AB	27678	83257;83258;83259	chr2:178557307;178557306;178557305	chr2:179422034;179422033;179422032
N2A	26751	80476;80477;80478	chr2:178557307;178557306;178557305	chr2:179422034;179422033;179422032
N2B	20254	60985;60986;60987	chr2:178557307;178557306;178557305	chr2:179422034;179422033;179422032
Novex-1	20379	61360;61361;61362	chr2:178557307;178557306;178557305	chr2:179422034;179422033;179422032
Novex-2	20446	61561;61562;61563	chr2:178557307;178557306;178557305	chr2:179422034;179422033;179422032
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGA
• RefSeq wild type template codon: CCT
• Domain: Fn3-101
• Domain position: 83
• Structural Position: 115
• Q(SASA): 0.1852
• 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
G/E	rs750942235	-1.058	1.0	D	0.917	0.698	0.661092831861	gnomAD-2.1.1	4.02E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	None	0	8.89E-06	0
G/E	rs750942235	-1.058	1.0	D	0.917	0.698	0.661092831861	gnomAD-4.0.0	1.36836E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.79882E-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
G/A	0.8053	likely_pathogenic	0.813	pathogenic	-0.584	Destabilizing	1.0	D	0.759	deleterious	D	0.55579608	None	None	I
G/C	0.9236	likely_pathogenic	0.9359	pathogenic	-0.969	Destabilizing	1.0	D	0.88	deleterious	None	None	None	None	I
G/D	0.9622	likely_pathogenic	0.9718	pathogenic	-1.175	Destabilizing	1.0	D	0.927	deleterious	None	None	None	None	I
G/E	0.9749	likely_pathogenic	0.9782	pathogenic	-1.34	Destabilizing	1.0	D	0.917	deleterious	D	0.567152385	None	None	I
G/F	0.9915	likely_pathogenic	0.993	pathogenic	-1.296	Destabilizing	1.0	D	0.899	deleterious	None	None	None	None	I
G/H	0.9781	likely_pathogenic	0.9877	pathogenic	-0.82	Destabilizing	1.0	D	0.883	deleterious	None	None	None	None	I
G/I	0.9896	likely_pathogenic	0.9915	pathogenic	-0.672	Destabilizing	1.0	D	0.904	deleterious	None	None	None	None	I
G/K	0.9701	likely_pathogenic	0.9829	pathogenic	-1.117	Destabilizing	1.0	D	0.916	deleterious	None	None	None	None	I
G/L	0.9841	likely_pathogenic	0.9879	pathogenic	-0.672	Destabilizing	1.0	D	0.885	deleterious	None	None	None	None	I
G/M	0.9877	likely_pathogenic	0.9904	pathogenic	-0.502	Destabilizing	1.0	D	0.878	deleterious	None	None	None	None	I
G/N	0.9604	likely_pathogenic	0.9771	pathogenic	-0.752	Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	I
G/P	0.9985	likely_pathogenic	0.9991	pathogenic	-0.609	Destabilizing	1.0	D	0.915	deleterious	None	None	None	None	I
G/Q	0.9649	likely_pathogenic	0.9764	pathogenic	-1.116	Destabilizing	1.0	D	0.925	deleterious	None	None	None	None	I
G/R	0.9377	likely_pathogenic	0.9574	pathogenic	-0.551	Destabilizing	1.0	D	0.926	deleterious	D	0.556049569	None	None	I
G/S	0.7032	likely_pathogenic	0.7649	pathogenic	-0.856	Destabilizing	1.0	D	0.867	deleterious	None	None	None	None	I
G/T	0.9275	likely_pathogenic	0.9481	pathogenic	-0.968	Destabilizing	1.0	D	0.916	deleterious	None	None	None	None	I
G/V	0.9732	likely_pathogenic	0.978	pathogenic	-0.609	Destabilizing	1.0	D	0.897	deleterious	D	0.538198804	None	None	I
G/W	0.9885	likely_pathogenic	0.9894	pathogenic	-1.422	Destabilizing	1.0	D	0.891	deleterious	None	None	None	None	I
G/Y	0.9863	likely_pathogenic	0.9899	pathogenic	-1.103	Destabilizing	1.0	D	0.899	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.