TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30359	91300;91301;91302	chr2:178551825;178551824;178551823	chr2:179416552;179416551;179416550
N2AB	28718	86377;86378;86379	chr2:178551825;178551824;178551823	chr2:179416552;179416551;179416550
N2A	27791	83596;83597;83598	chr2:178551825;178551824;178551823	chr2:179416552;179416551;179416550
N2B	21294	64105;64106;64107	chr2:178551825;178551824;178551823	chr2:179416552;179416551;179416550
Novex-1	21419	64480;64481;64482	chr2:178551825;178551824;178551823	chr2:179416552;179416551;179416550
Novex-2	21486	64681;64682;64683	chr2:178551825;178551824;178551823	chr2:179416552;179416551;179416550
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: F
• RefSeq wild type transcript codon: TTC
• RefSeq wild type template codon: AAG
• Domain: Fn3-109
• Domain position: 36
• Structural Position: 38
• Q(SASA): 0.0878
• 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
F/L	rs1312420792	-2.133	0.055	N	0.689	0.493	0.39724302092	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.9E-06	0
F/L	rs1312420792	-2.133	0.055	N	0.689	0.493	0.39724302092	gnomAD-4.0.0	1.59111E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85799E-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
F/A	0.9836	likely_pathogenic	0.9859	pathogenic	-3.274	Highly Destabilizing	0.272	N	0.805	deleterious	None	None	None	None	N
F/C	0.768	likely_pathogenic	0.8028	pathogenic	-2.015	Highly Destabilizing	0.958	D	0.873	deleterious	N	0.482142432	None	None	N
F/D	0.9966	likely_pathogenic	0.997	pathogenic	-4.01	Highly Destabilizing	0.726	D	0.879	deleterious	None	None	None	None	N
F/E	0.9975	likely_pathogenic	0.9977	pathogenic	-3.79	Highly Destabilizing	0.726	D	0.861	deleterious	None	None	None	None	N
F/G	0.9909	likely_pathogenic	0.9918	pathogenic	-3.702	Highly Destabilizing	0.726	D	0.83	deleterious	None	None	None	None	N
F/H	0.9326	likely_pathogenic	0.9367	pathogenic	-2.469	Highly Destabilizing	0.567	D	0.77	deleterious	None	None	None	None	N
F/I	0.7515	likely_pathogenic	0.7974	pathogenic	-1.838	Destabilizing	0.22	N	0.723	prob.delet.	N	0.482649411	None	None	N
F/K	0.9964	likely_pathogenic	0.9968	pathogenic	-2.486	Highly Destabilizing	0.567	D	0.867	deleterious	None	None	None	None	N
F/L	0.9733	likely_pathogenic	0.9807	pathogenic	-1.838	Destabilizing	0.055	N	0.689	prob.neutral	N	0.482395922	None	None	N
F/M	0.9064	likely_pathogenic	0.9222	pathogenic	-1.527	Destabilizing	0.726	D	0.745	deleterious	None	None	None	None	N
F/N	0.9784	likely_pathogenic	0.9812	pathogenic	-3.088	Highly Destabilizing	0.726	D	0.883	deleterious	None	None	None	None	N
F/P	0.9996	likely_pathogenic	0.9997	pathogenic	-2.335	Highly Destabilizing	0.89	D	0.891	deleterious	None	None	None	None	N
F/Q	0.9922	likely_pathogenic	0.9931	pathogenic	-3.004	Highly Destabilizing	0.726	D	0.886	deleterious	None	None	None	None	N
F/R	0.9896	likely_pathogenic	0.9906	pathogenic	-2.049	Highly Destabilizing	0.567	D	0.885	deleterious	None	None	None	None	N
F/S	0.9666	likely_pathogenic	0.9708	pathogenic	-3.565	Highly Destabilizing	0.497	N	0.807	deleterious	N	0.482649411	None	None	N
F/T	0.9776	likely_pathogenic	0.9803	pathogenic	-3.237	Highly Destabilizing	0.567	D	0.798	deleterious	None	None	None	None	N
F/V	0.783	likely_pathogenic	0.8221	pathogenic	-2.335	Highly Destabilizing	0.22	N	0.745	deleterious	N	0.471293106	None	None	N
F/W	0.662	likely_pathogenic	0.6592	pathogenic	-0.86	Destabilizing	0.726	D	0.727	prob.delet.	None	None	None	None	N
F/Y	0.1188	likely_benign	0.108	benign	-1.354	Destabilizing	None	N	0.319	neutral	N	0.285833954	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.