TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33554	100885;100886;100887	chr2:178536087;178536086;178536085	chr2:179400814;179400813;179400812
N2AB	31913	95962;95963;95964	chr2:178536087;178536086;178536085	chr2:179400814;179400813;179400812
N2A	30986	93181;93182;93183	chr2:178536087;178536086;178536085	chr2:179400814;179400813;179400812
N2B	24489	73690;73691;73692	chr2:178536087;178536086;178536085	chr2:179400814;179400813;179400812
Novex-1	24614	74065;74066;74067	chr2:178536087;178536086;178536085	chr2:179400814;179400813;179400812
Novex-2	24681	74266;74267;74268	chr2:178536087;178536086;178536085	chr2:179400814;179400813;179400812
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-158
• Domain position: 59
• Structural Position: 137
• Q(SASA): 0.1968
• 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
Q/E	None	None	0.999	N	0.439	0.382	0.348324211639	gnomAD-4.0.0	1.59882E-06	None	None	None	None	N	None	0	0	None	0	0	None	1.88637E-05	0	0	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
Q/A	0.8032	likely_pathogenic	0.7161	pathogenic	-0.971	Destabilizing	1.0	D	0.491	neutral	None	None	None	None	N
Q/C	0.9858	likely_pathogenic	0.9611	pathogenic	-0.344	Destabilizing	1.0	D	0.799	deleterious	None	None	None	None	N
Q/D	0.9962	likely_pathogenic	0.9857	pathogenic	-1.787	Destabilizing	0.999	D	0.526	neutral	None	None	None	None	N
Q/E	0.6885	likely_pathogenic	0.4476	ambiguous	-1.474	Destabilizing	0.999	D	0.439	neutral	N	0.460329867	None	None	N
Q/F	0.9951	likely_pathogenic	0.9851	pathogenic	-0.356	Destabilizing	1.0	D	0.815	deleterious	None	None	None	None	N
Q/G	0.9226	likely_pathogenic	0.8881	pathogenic	-1.448	Destabilizing	1.0	D	0.615	neutral	None	None	None	None	N
Q/H	0.9504	likely_pathogenic	0.8328	pathogenic	-0.909	Destabilizing	1.0	D	0.704	prob.neutral	N	0.484516236	None	None	N
Q/I	0.9475	likely_pathogenic	0.868	pathogenic	0.348	Stabilizing	1.0	D	0.791	deleterious	None	None	None	None	N
Q/K	0.907	likely_pathogenic	0.6686	pathogenic	-0.258	Destabilizing	0.999	D	0.501	neutral	N	0.46437025	None	None	N
Q/L	0.8728	likely_pathogenic	0.6978	pathogenic	0.348	Stabilizing	0.999	D	0.615	neutral	N	0.476184754	None	None	N
Q/M	0.8624	likely_pathogenic	0.7675	pathogenic	0.463	Stabilizing	1.0	D	0.709	prob.delet.	None	None	None	None	N
Q/N	0.9264	likely_pathogenic	0.8512	pathogenic	-1.194	Destabilizing	1.0	D	0.638	neutral	None	None	None	None	N
Q/P	0.998	likely_pathogenic	0.9947	pathogenic	-0.066	Destabilizing	1.0	D	0.693	prob.neutral	N	0.492226923	None	None	N
Q/R	0.9124	likely_pathogenic	0.696	pathogenic	-0.496	Destabilizing	0.999	D	0.527	neutral	N	0.460676584	None	None	N
Q/S	0.7315	likely_pathogenic	0.6527	pathogenic	-1.478	Destabilizing	1.0	D	0.489	neutral	None	None	None	None	N
Q/T	0.7451	likely_pathogenic	0.6171	pathogenic	-0.964	Destabilizing	0.999	D	0.629	neutral	None	None	None	None	N
Q/V	0.8961	likely_pathogenic	0.7847	pathogenic	-0.066	Destabilizing	1.0	D	0.659	neutral	None	None	None	None	N
Q/W	0.9979	likely_pathogenic	0.9918	pathogenic	-0.42	Destabilizing	1.0	D	0.772	deleterious	None	None	None	None	N
Q/Y	0.9933	likely_pathogenic	0.9702	pathogenic	-0.001	Destabilizing	1.0	D	0.743	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.