TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	24109	72550;72551;72552	chr2:178573807;178573806;178573805	chr2:179438534;179438533;179438532
N2AB	22468	67627;67628;67629	chr2:178573807;178573806;178573805	chr2:179438534;179438533;179438532
N2A	21541	64846;64847;64848	chr2:178573807;178573806;178573805	chr2:179438534;179438533;179438532
N2B	15044	45355;45356;45357	chr2:178573807;178573806;178573805	chr2:179438534;179438533;179438532
Novex-1	15169	45730;45731;45732	chr2:178573807;178573806;178573805	chr2:179438534;179438533;179438532
Novex-2	15236	45931;45932;45933	chr2:178573807;178573806;178573805	chr2:179438534;179438533;179438532
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-131
• Domain position: 81
• Structural Position: 164
• Q(SASA): 0.2563
• 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/A	rs1165671355	0.056	0.995	D	0.625	0.732	0.581024980495	gnomAD-2.1.1	8.08E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	None	0	1.78E-05	0
G/A	rs1165671355	0.056	0.995	D	0.625	0.732	0.581024980495	gnomAD-4.0.0	4.79388E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.61307E-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	0.8575	likely_pathogenic	0.8478	pathogenic	-0.264	Destabilizing	0.995	D	0.625	neutral	D	0.590156758	None	None	I
G/C	0.9157	likely_pathogenic	0.9227	pathogenic	-0.872	Destabilizing	1.0	D	0.775	deleterious	D	0.639657832	None	None	I
G/D	0.9629	likely_pathogenic	0.9624	pathogenic	-0.339	Destabilizing	0.604	D	0.531	neutral	D	0.61668425	None	None	I
G/E	0.9803	likely_pathogenic	0.9771	pathogenic	-0.492	Destabilizing	0.998	D	0.798	deleterious	None	None	None	None	I
G/F	0.9888	likely_pathogenic	0.9901	pathogenic	-0.972	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	I
G/H	0.9873	likely_pathogenic	0.9863	pathogenic	-0.475	Destabilizing	1.0	D	0.809	deleterious	None	None	None	None	I
G/I	0.9814	likely_pathogenic	0.9793	pathogenic	-0.421	Destabilizing	1.0	D	0.819	deleterious	None	None	None	None	I
G/K	0.9892	likely_pathogenic	0.9865	pathogenic	-0.7	Destabilizing	0.999	D	0.807	deleterious	None	None	None	None	I
G/L	0.9831	likely_pathogenic	0.984	pathogenic	-0.421	Destabilizing	0.999	D	0.79	deleterious	None	None	None	None	I
G/M	0.9902	likely_pathogenic	0.9909	pathogenic	-0.561	Destabilizing	1.0	D	0.757	deleterious	None	None	None	None	I
G/N	0.9618	likely_pathogenic	0.9581	pathogenic	-0.375	Destabilizing	0.998	D	0.773	deleterious	None	None	None	None	I
G/P	0.9993	likely_pathogenic	0.9991	pathogenic	-0.338	Destabilizing	0.999	D	0.809	deleterious	None	None	None	None	I
G/Q	0.9805	likely_pathogenic	0.9773	pathogenic	-0.612	Destabilizing	0.999	D	0.819	deleterious	None	None	None	None	I
G/R	0.9685	likely_pathogenic	0.9627	pathogenic	-0.318	Destabilizing	0.999	D	0.818	deleterious	D	0.63864881	None	None	I
G/S	0.7527	likely_pathogenic	0.732	pathogenic	-0.539	Destabilizing	0.999	D	0.766	deleterious	D	0.612303482	None	None	I
G/T	0.9573	likely_pathogenic	0.947	pathogenic	-0.616	Destabilizing	0.999	D	0.803	deleterious	None	None	None	None	I
G/V	0.9701	likely_pathogenic	0.9674	pathogenic	-0.338	Destabilizing	0.999	D	0.791	deleterious	D	0.655273584	None	None	I
G/W	0.9866	likely_pathogenic	0.9892	pathogenic	-1.125	Destabilizing	1.0	D	0.77	deleterious	None	None	None	None	I
G/Y	0.9796	likely_pathogenic	0.9795	pathogenic	-0.782	Destabilizing	1.0	D	0.811	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.