TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5235	15928;15929;15930	chr2:178733686;178733685;178733684	chr2:179598413;179598412;179598411
N2AB	4918	14977;14978;14979	chr2:178733686;178733685;178733684	chr2:179598413;179598412;179598411
N2A	3991	12196;12197;12198	chr2:178733686;178733685;178733684	chr2:179598413;179598412;179598411
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
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: Ig-35
• Domain position: 68
• Structural Position: 151
• Q(SASA): 0.2331
• 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
G/R	None	None	0.638	N	0.757	0.286	0.558422169324	gnomAD-4.0.0	1.59126E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43303E-05	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	0.0676	likely_benign	0.0809	benign	-0.189	Destabilizing	0.002	N	0.279	neutral	N	0.368798831	None	None	N
G/C	0.1579	likely_benign	0.2116	benign	-0.647	Destabilizing	0.011	N	0.573	neutral	None	None	None	None	N
G/D	0.2465	likely_benign	0.3913	ambiguous	0.156	Stabilizing	0.7	D	0.717	prob.delet.	None	None	None	None	N
G/E	0.1799	likely_benign	0.2771	benign	0.118	Stabilizing	0.638	D	0.721	prob.delet.	N	0.440007777	None	None	N
G/F	0.4862	ambiguous	0.6751	pathogenic	-0.444	Destabilizing	0.826	D	0.79	deleterious	None	None	None	None	N
G/H	0.3184	likely_benign	0.4647	ambiguous	-0.709	Destabilizing	0.947	D	0.735	prob.delet.	None	None	None	None	N
G/I	0.2127	likely_benign	0.318	benign	0.205	Stabilizing	0.7	D	0.796	deleterious	None	None	None	None	N
G/K	0.2866	likely_benign	0.4309	ambiguous	-0.613	Destabilizing	0.539	D	0.719	prob.delet.	None	None	None	None	N
G/L	0.2952	likely_benign	0.4273	ambiguous	0.205	Stabilizing	0.539	D	0.704	prob.neutral	None	None	None	None	N
G/M	0.3651	ambiguous	0.4981	ambiguous	-0.085	Destabilizing	0.947	D	0.765	deleterious	None	None	None	None	N
G/N	0.2655	likely_benign	0.3867	ambiguous	-0.361	Destabilizing	0.539	D	0.604	neutral	None	None	None	None	N
G/P	0.634	likely_pathogenic	0.824	pathogenic	0.117	Stabilizing	0.7	D	0.755	deleterious	None	None	None	None	N
G/Q	0.2307	likely_benign	0.3173	benign	-0.405	Destabilizing	0.7	D	0.771	deleterious	None	None	None	None	N
G/R	0.1818	likely_benign	0.273	benign	-0.517	Destabilizing	0.638	D	0.757	deleterious	N	0.504696727	None	None	N
G/S	0.0727	likely_benign	0.084	benign	-0.748	Destabilizing	0.02	N	0.319	neutral	None	None	None	None	N
G/T	0.1118	likely_benign	0.1485	benign	-0.667	Destabilizing	0.539	D	0.653	neutral	None	None	None	None	N
G/V	0.1536	likely_benign	0.2295	benign	0.117	Stabilizing	0.468	N	0.713	prob.delet.	N	0.507964228	None	None	N
G/W	0.3836	ambiguous	0.5563	ambiguous	-0.826	Destabilizing	0.982	D	0.706	prob.neutral	None	None	None	None	N
G/Y	0.3567	ambiguous	0.5228	ambiguous	-0.335	Destabilizing	0.947	D	0.781	deleterious	None	None	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.