TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28970	87133;87134;87135	chr2:178558551;178558550;178558549	chr2:179423278;179423277;179423276
N2AB	27329	82210;82211;82212	chr2:178558551;178558550;178558549	chr2:179423278;179423277;179423276
N2A	26402	79429;79430;79431	chr2:178558551;178558550;178558549	chr2:179423278;179423277;179423276
N2B	19905	59938;59939;59940	chr2:178558551;178558550;178558549	chr2:179423278;179423277;179423276
Novex-1	20030	60313;60314;60315	chr2:178558551;178558550;178558549	chr2:179423278;179423277;179423276
Novex-2	20097	60514;60515;60516	chr2:178558551;178558550;178558549	chr2:179423278;179423277;179423276
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: G
• RefSeq wild type transcript codon: GGC
• RefSeq wild type template codon: CCG
• Domain: Fn3-99
• Domain position: 29
• Structural Position: 31
• Q(SASA): 0.3656
• Predicted PPI site: I

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/D	rs1575593866	None	1.0	N	0.83	0.503	0.383256108077	gnomAD-3.1.2	6.57E-06	None	None	None	None	I	None	0	0	0	0	0	None	0	0	1.47E-05	0	0
G/D	rs1575593866	None	1.0	N	0.83	0.503	0.383256108077	gnomAD-4.0.0	7.10465E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.43436E-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	0.9322	likely_pathogenic	0.933	pathogenic	-0.276	Destabilizing	0.998	D	0.621	neutral	N	0.512337008	None	None	I
G/C	0.9813	likely_pathogenic	0.9804	pathogenic	-0.607	Destabilizing	1.0	D	0.848	deleterious	D	0.540102501	None	None	I
G/D	0.9953	likely_pathogenic	0.9961	pathogenic	-0.942	Destabilizing	1.0	D	0.83	deleterious	N	0.502030659	None	None	I
G/E	0.9966	likely_pathogenic	0.9965	pathogenic	-1.125	Destabilizing	1.0	D	0.882	deleterious	None	None	None	None	I
G/F	0.9969	likely_pathogenic	0.9968	pathogenic	-1.196	Destabilizing	1.0	D	0.859	deleterious	None	None	None	None	I
G/H	0.9964	likely_pathogenic	0.9966	pathogenic	-0.616	Destabilizing	1.0	D	0.858	deleterious	None	None	None	None	I
G/I	0.9975	likely_pathogenic	0.9976	pathogenic	-0.452	Destabilizing	1.0	D	0.857	deleterious	None	None	None	None	I
G/K	0.9953	likely_pathogenic	0.9956	pathogenic	-0.743	Destabilizing	1.0	D	0.887	deleterious	None	None	None	None	I
G/L	0.9957	likely_pathogenic	0.996	pathogenic	-0.452	Destabilizing	1.0	D	0.872	deleterious	None	None	None	None	I
G/M	0.9978	likely_pathogenic	0.9978	pathogenic	-0.229	Destabilizing	1.0	D	0.844	deleterious	None	None	None	None	I
G/N	0.994	likely_pathogenic	0.994	pathogenic	-0.294	Destabilizing	1.0	D	0.845	deleterious	None	None	None	None	I
G/P	0.9995	likely_pathogenic	0.9995	pathogenic	-0.361	Destabilizing	1.0	D	0.891	deleterious	None	None	None	None	I
G/Q	0.9946	likely_pathogenic	0.9947	pathogenic	-0.666	Destabilizing	1.0	D	0.885	deleterious	None	None	None	None	I
G/R	0.981	likely_pathogenic	0.9824	pathogenic	-0.236	Destabilizing	1.0	D	0.894	deleterious	N	0.489117418	None	None	I
G/S	0.9082	likely_pathogenic	0.9052	pathogenic	-0.353	Destabilizing	0.927	D	0.646	neutral	N	0.51132305	None	None	I
G/T	0.9905	likely_pathogenic	0.9905	pathogenic	-0.487	Destabilizing	1.0	D	0.877	deleterious	None	None	None	None	I
G/V	0.9948	likely_pathogenic	0.9948	pathogenic	-0.361	Destabilizing	1.0	D	0.876	deleterious	N	0.507919689	None	None	I
G/W	0.993	likely_pathogenic	0.9933	pathogenic	-1.349	Destabilizing	1.0	D	0.858	deleterious	None	None	None	None	I
G/Y	0.9953	likely_pathogenic	0.995	pathogenic	-0.989	Destabilizing	1.0	D	0.857	deleterious	None	None	None	None	I

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.