TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	9963	30112;30113;30114	chr2:178704585;178704584;178704583	chr2:179569312;179569311;179569310
N2AB	9646	29161;29162;29163	chr2:178704585;178704584;178704583	chr2:179569312;179569311;179569310
N2A	8719	26380;26381;26382	chr2:178704585;178704584;178704583	chr2:179569312;179569311;179569310
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: C
• RefSeq wild type transcript codon: TGT
• RefSeq wild type template codon: ACA
• Domain: Ig-84
• Domain position: 64
• Structural Position: 144
• Q(SASA): 0.0808
• 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
C/G	rs771005008	-0.607	0.994	None	0.699	0.662	0.883891755503	gnomAD-2.1.1	2.42E-05	None	None	None	None	N	None	0	0	None	0	0	None	1.97252E-04	None	0	0	0
C/G	rs771005008	-0.607	0.994	None	0.699	0.662	0.883891755503	gnomAD-4.0.0	1.30036E-05	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	2.20612E-04	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
C/A	0.8869	likely_pathogenic	0.8902	pathogenic	-0.188	Destabilizing	0.965	D	0.507	neutral	None	None	None	None	N
C/D	0.999	likely_pathogenic	0.9991	pathogenic	-1.934	Destabilizing	0.999	D	0.729	prob.delet.	None	None	None	None	N
C/E	0.9996	likely_pathogenic	0.9995	pathogenic	-1.813	Destabilizing	0.999	D	0.733	prob.delet.	None	None	None	None	N
C/F	0.9764	likely_pathogenic	0.9756	pathogenic	-0.48	Destabilizing	0.989	D	0.701	prob.neutral	None	None	None	None	N
C/G	0.9076	likely_pathogenic	0.8999	pathogenic	-0.372	Destabilizing	0.994	D	0.699	prob.neutral	None	None	None	None	N
C/H	0.9976	likely_pathogenic	0.9974	pathogenic	-1.133	Destabilizing	1.0	D	0.724	prob.delet.	None	None	None	None	N
C/I	0.9368	likely_pathogenic	0.9369	pathogenic	0.23	Stabilizing	0.996	D	0.685	prob.neutral	None	None	None	None	N
C/K	0.9996	likely_pathogenic	0.9996	pathogenic	-0.37	Destabilizing	0.999	D	0.731	prob.delet.	None	None	None	None	N
C/L	0.9202	likely_pathogenic	0.9235	pathogenic	0.23	Stabilizing	0.97	D	0.566	neutral	None	None	None	None	N
C/M	0.9824	likely_pathogenic	0.9787	pathogenic	0.491	Stabilizing	1.0	D	0.659	neutral	None	None	None	None	N
C/N	0.9936	likely_pathogenic	0.9944	pathogenic	-0.927	Destabilizing	0.999	D	0.743	deleterious	None	None	None	None	N
C/P	0.9881	likely_pathogenic	0.993	pathogenic	0.115	Stabilizing	0.999	D	0.741	deleterious	None	None	None	None	N
C/Q	0.9986	likely_pathogenic	0.9985	pathogenic	-0.783	Destabilizing	0.999	D	0.747	deleterious	None	None	None	None	N
C/R	0.9958	likely_pathogenic	0.9954	pathogenic	-0.698	Destabilizing	0.998	D	0.74	deleterious	None	None	None	None	N
C/S	0.9091	likely_pathogenic	0.9149	pathogenic	-0.798	Destabilizing	0.998	D	0.671	neutral	None	None	None	None	N
C/T	0.9239	likely_pathogenic	0.927	pathogenic	-0.571	Destabilizing	0.999	D	0.667	neutral	None	None	None	None	N
C/V	0.8477	likely_pathogenic	0.8498	pathogenic	0.115	Stabilizing	0.985	D	0.641	neutral	None	None	None	None	N
C/W	0.9971	likely_pathogenic	0.9969	pathogenic	-1.142	Destabilizing	0.151	N	0.467	neutral	None	None	None	None	N
C/Y	0.9932	likely_pathogenic	0.9931	pathogenic	-0.598	Destabilizing	0.989	D	0.7	prob.neutral	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.