TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33153	99682;99683;99684	chr2:178537750;178537749;178537748	chr2:179402477;179402476;179402475
N2AB	31512	94759;94760;94761	chr2:178537750;178537749;178537748	chr2:179402477;179402476;179402475
N2A	30585	91978;91979;91980	chr2:178537750;178537749;178537748	chr2:179402477;179402476;179402475
N2B	24088	72487;72488;72489	chr2:178537750;178537749;178537748	chr2:179402477;179402476;179402475
Novex-1	24213	72862;72863;72864	chr2:178537750;178537749;178537748	chr2:179402477;179402476;179402475
Novex-2	24280	73063;73064;73065	chr2:178537750;178537749;178537748	chr2:179402477;179402476;179402475
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-156
• Domain position: 53
• Structural Position: 131
• Q(SASA): 0.218
• 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	1.0	N	0.671	0.585	0.553388312184	gnomAD-4.0.0	5.47378E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	7.19581E-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	0.5955	likely_pathogenic	0.5604	ambiguous	-0.241	Destabilizing	1.0	D	0.534	neutral	N	0.468826527	None	None	N
G/C	0.8394	likely_pathogenic	0.8016	pathogenic	-0.635	Destabilizing	1.0	D	0.708	prob.delet.	None	None	None	None	N
G/D	0.857	likely_pathogenic	0.7766	pathogenic	-0.603	Destabilizing	1.0	D	0.618	neutral	None	None	None	None	N
G/E	0.8845	likely_pathogenic	0.8188	pathogenic	-0.761	Destabilizing	1.0	D	0.669	neutral	N	0.476221174	None	None	N
G/F	0.9597	likely_pathogenic	0.9519	pathogenic	-0.988	Destabilizing	1.0	D	0.693	prob.neutral	None	None	None	None	N
G/H	0.9293	likely_pathogenic	0.9025	pathogenic	-0.614	Destabilizing	1.0	D	0.666	neutral	None	None	None	None	N
G/I	0.9291	likely_pathogenic	0.9102	pathogenic	-0.32	Destabilizing	1.0	D	0.697	prob.neutral	None	None	None	None	N
G/K	0.9507	likely_pathogenic	0.927	pathogenic	-0.791	Destabilizing	1.0	D	0.67	neutral	None	None	None	None	N
G/L	0.923	likely_pathogenic	0.905	pathogenic	-0.32	Destabilizing	1.0	D	0.705	prob.neutral	None	None	None	None	N
G/M	0.937	likely_pathogenic	0.9181	pathogenic	-0.305	Destabilizing	1.0	D	0.702	prob.neutral	None	None	None	None	N
G/N	0.7644	likely_pathogenic	0.6947	pathogenic	-0.298	Destabilizing	1.0	D	0.638	neutral	None	None	None	None	N
G/P	0.9911	likely_pathogenic	0.9879	pathogenic	-0.259	Destabilizing	1.0	D	0.671	neutral	None	None	None	None	N
G/Q	0.8647	likely_pathogenic	0.8174	pathogenic	-0.585	Destabilizing	1.0	D	0.679	prob.neutral	None	None	None	None	N
G/R	0.8779	likely_pathogenic	0.8416	pathogenic	-0.361	Destabilizing	1.0	D	0.671	neutral	N	0.474422388	None	None	N
G/S	0.3171	likely_benign	0.2882	benign	-0.431	Destabilizing	1.0	D	0.635	neutral	None	None	None	None	N
G/T	0.776	likely_pathogenic	0.7231	pathogenic	-0.522	Destabilizing	1.0	D	0.667	neutral	None	None	None	None	N
G/V	0.8903	likely_pathogenic	0.8611	pathogenic	-0.259	Destabilizing	1.0	D	0.703	prob.neutral	N	0.479310686	None	None	N
G/W	0.9375	likely_pathogenic	0.9215	pathogenic	-1.181	Destabilizing	1.0	D	0.677	prob.neutral	None	None	None	None	N
G/Y	0.9382	likely_pathogenic	0.9204	pathogenic	-0.814	Destabilizing	1.0	D	0.689	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.