TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23027	69304;69305;69306	chr2:178577256;178577255;178577254	chr2:179441983;179441982;179441981
N2AB	21386	64381;64382;64383	chr2:178577256;178577255;178577254	chr2:179441983;179441982;179441981
N2A	20459	61600;61601;61602	chr2:178577256;178577255;178577254	chr2:179441983;179441982;179441981
N2B	13962	42109;42110;42111	chr2:178577256;178577255;178577254	chr2:179441983;179441982;179441981
Novex-1	14087	42484;42485;42486	chr2:178577256;178577255;178577254	chr2:179441983;179441982;179441981
Novex-2	14154	42685;42686;42687	chr2:178577256;178577255;178577254	chr2:179441983;179441982;179441981
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Ig-128
• Domain position: 78
• Structural Position: 164
• Q(SASA): 0.2242
• 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/D	rs780975029	None	1.0	D	0.853	0.748	0.603824409933	gnomAD-4.0.0	2.40064E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.625E-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	0.7164	likely_pathogenic	0.7314	pathogenic	-0.276	Destabilizing	1.0	D	0.739	prob.delet.	D	0.581798831	None	None	I
G/C	0.8792	likely_pathogenic	0.9027	pathogenic	-0.837	Destabilizing	1.0	D	0.804	deleterious	D	0.624799294	None	None	I
G/D	0.9147	likely_pathogenic	0.939	pathogenic	-0.681	Destabilizing	1.0	D	0.853	deleterious	D	0.593932114	None	None	I
G/E	0.9533	likely_pathogenic	0.9635	pathogenic	-0.853	Destabilizing	1.0	D	0.835	deleterious	None	None	None	None	I
G/F	0.9875	likely_pathogenic	0.9881	pathogenic	-1.089	Destabilizing	1.0	D	0.835	deleterious	None	None	None	None	I
G/H	0.9732	likely_pathogenic	0.9781	pathogenic	-0.552	Destabilizing	1.0	D	0.807	deleterious	None	None	None	None	I
G/I	0.9823	likely_pathogenic	0.9849	pathogenic	-0.471	Destabilizing	1.0	D	0.841	deleterious	None	None	None	None	I
G/K	0.9777	likely_pathogenic	0.9791	pathogenic	-0.803	Destabilizing	1.0	D	0.836	deleterious	None	None	None	None	I
G/L	0.9711	likely_pathogenic	0.9763	pathogenic	-0.471	Destabilizing	1.0	D	0.83	deleterious	None	None	None	None	I
G/M	0.9846	likely_pathogenic	0.9863	pathogenic	-0.46	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	I
G/N	0.9439	likely_pathogenic	0.956	pathogenic	-0.429	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	I
G/P	0.9991	likely_pathogenic	0.9991	pathogenic	-0.375	Destabilizing	1.0	D	0.857	deleterious	None	None	None	None	I
G/Q	0.9436	likely_pathogenic	0.9508	pathogenic	-0.734	Destabilizing	1.0	D	0.857	deleterious	None	None	None	None	I
G/R	0.9328	likely_pathogenic	0.9389	pathogenic	-0.342	Destabilizing	1.0	D	0.862	deleterious	D	0.623790273	None	None	I
G/S	0.601	likely_pathogenic	0.6231	pathogenic	-0.534	Destabilizing	1.0	D	0.795	deleterious	D	0.579336101	None	None	I
G/T	0.9335	likely_pathogenic	0.9424	pathogenic	-0.643	Destabilizing	1.0	D	0.831	deleterious	None	None	None	None	I
G/V	0.9671	likely_pathogenic	0.9725	pathogenic	-0.375	Destabilizing	1.0	D	0.833	deleterious	D	0.624395685	None	None	I
G/W	0.981	likely_pathogenic	0.984	pathogenic	-1.235	Destabilizing	1.0	D	0.81	deleterious	None	None	None	None	I
G/Y	0.9813	likely_pathogenic	0.9833	pathogenic	-0.893	Destabilizing	1.0	D	0.834	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.