TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	25979	78160;78161;78162	chr2:178568197;178568196;178568195	chr2:179432924;179432923;179432922
N2AB	24338	73237;73238;73239	chr2:178568197;178568196;178568195	chr2:179432924;179432923;179432922
N2A	23411	70456;70457;70458	chr2:178568197;178568196;178568195	chr2:179432924;179432923;179432922
N2B	16914	50965;50966;50967	chr2:178568197;178568196;178568195	chr2:179432924;179432923;179432922
Novex-1	17039	51340;51341;51342	chr2:178568197;178568196;178568195	chr2:179432924;179432923;179432922
Novex-2	17106	51541;51542;51543	chr2:178568197;178568196;178568195	chr2:179432924;179432923;179432922
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: S
• RefSeq wild type transcript codon: TCT
• RefSeq wild type template codon: AGA
• Domain: Fn3-76
• Domain position: 90
• Structural Position: 123
• Q(SASA): 0.2796
• 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
S/A	None	None	0.994	N	0.627	0.297	0.373173300195	gnomAD-4.0.0	1.59169E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43283E-05	0
S/F	None	None	0.999	N	0.853	0.394	0.632343933599	gnomAD-4.0.0	1.59171E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85945E-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
S/A	0.4676	ambiguous	0.5276	ambiguous	-0.475	Destabilizing	0.994	D	0.627	neutral	N	0.505119576	None	None	N
S/C	0.5138	ambiguous	0.5761	pathogenic	-0.248	Destabilizing	1.0	D	0.776	deleterious	D	0.526150346	None	None	N
S/D	0.9767	likely_pathogenic	0.9834	pathogenic	-0.65	Destabilizing	0.998	D	0.744	deleterious	None	None	None	None	N
S/E	0.9938	likely_pathogenic	0.9961	pathogenic	-0.484	Destabilizing	0.998	D	0.756	deleterious	None	None	None	None	N
S/F	0.9842	likely_pathogenic	0.9918	pathogenic	-0.318	Destabilizing	0.999	D	0.853	deleterious	N	0.506640513	None	None	N
S/G	0.4908	ambiguous	0.5271	ambiguous	-0.866	Destabilizing	0.998	D	0.698	prob.delet.	None	None	None	None	N
S/H	0.975	likely_pathogenic	0.9839	pathogenic	-1.189	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
S/I	0.9589	likely_pathogenic	0.9751	pathogenic	0.506	Stabilizing	0.999	D	0.869	deleterious	None	None	None	None	N
S/K	0.9986	likely_pathogenic	0.9992	pathogenic	-0.075	Destabilizing	0.998	D	0.743	deleterious	None	None	None	None	N
S/L	0.8751	likely_pathogenic	0.91	pathogenic	0.506	Stabilizing	0.999	D	0.812	deleterious	None	None	None	None	N
S/M	0.8877	likely_pathogenic	0.9104	pathogenic	0.335	Stabilizing	1.0	D	0.786	deleterious	None	None	None	None	N
S/N	0.9051	likely_pathogenic	0.9264	pathogenic	-0.62	Destabilizing	0.998	D	0.76	deleterious	None	None	None	None	N
S/P	0.9933	likely_pathogenic	0.9967	pathogenic	0.216	Stabilizing	0.999	D	0.862	deleterious	N	0.514540551	None	None	N
S/Q	0.992	likely_pathogenic	0.9948	pathogenic	-0.401	Destabilizing	0.999	D	0.819	deleterious	None	None	None	None	N
S/R	0.9983	likely_pathogenic	0.999	pathogenic	-0.411	Destabilizing	0.999	D	0.855	deleterious	None	None	None	None	N
S/T	0.2656	likely_benign	0.2509	benign	-0.371	Destabilizing	0.997	D	0.712	prob.delet.	N	0.507848881	None	None	N
S/V	0.9098	likely_pathogenic	0.9374	pathogenic	0.216	Stabilizing	0.999	D	0.861	deleterious	None	None	None	None	N
S/W	0.9848	likely_pathogenic	0.9922	pathogenic	-0.554	Destabilizing	1.0	D	0.833	deleterious	None	None	None	None	N
S/Y	0.9748	likely_pathogenic	0.9867	pathogenic	-0.087	Destabilizing	0.999	D	0.85	deleterious	D	0.548520562	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.