TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18961	57106;57107;57108	chr2:178598829;178598828;178598827	chr2:179463556;179463555;179463554
N2AB	17320	52183;52184;52185	chr2:178598829;178598828;178598827	chr2:179463556;179463555;179463554
N2A	16393	49402;49403;49404	chr2:178598829;178598828;178598827	chr2:179463556;179463555;179463554
N2B	9896	29911;29912;29913	chr2:178598829;178598828;178598827	chr2:179463556;179463555;179463554
Novex-1	10021	30286;30287;30288	chr2:178598829;178598828;178598827	chr2:179463556;179463555;179463554
Novex-2	10088	30487;30488;30489	chr2:178598829;178598828;178598827	chr2:179463556;179463555;179463554
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: Fn3-25
• Domain position: 78
• Structural Position: 106
• Q(SASA): 0.1382
• 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	None	None	0.885	N	0.711	0.422	0.607789150232	gnomAD-4.0.0	2.40064E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.625E-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	0.9991	likely_pathogenic	0.9987	pathogenic	-3.127	Highly Destabilizing	0.953	D	0.749	deleterious	None	None	None	None	N
F/C	0.9809	likely_pathogenic	0.977	pathogenic	-1.895	Destabilizing	0.999	D	0.765	deleterious	D	0.545656499	None	None	N
F/D	0.9998	likely_pathogenic	0.9997	pathogenic	-3.89	Highly Destabilizing	0.998	D	0.815	deleterious	None	None	None	None	N
F/E	0.9998	likely_pathogenic	0.9997	pathogenic	-3.649	Highly Destabilizing	0.993	D	0.813	deleterious	None	None	None	None	N
F/G	0.9989	likely_pathogenic	0.9983	pathogenic	-3.593	Highly Destabilizing	0.993	D	0.794	deleterious	None	None	None	None	N
F/H	0.9911	likely_pathogenic	0.9875	pathogenic	-2.374	Highly Destabilizing	0.986	D	0.693	prob.neutral	None	None	None	None	N
F/I	0.9801	likely_pathogenic	0.9821	pathogenic	-1.572	Destabilizing	0.982	D	0.709	prob.delet.	N	0.486425301	None	None	N
F/K	0.9997	likely_pathogenic	0.9995	pathogenic	-2.498	Highly Destabilizing	0.993	D	0.813	deleterious	None	None	None	None	N
F/L	0.9967	likely_pathogenic	0.9969	pathogenic	-1.572	Destabilizing	0.885	D	0.711	prob.delet.	N	0.487034412	None	None	N
F/M	0.9892	likely_pathogenic	0.9876	pathogenic	-1.235	Destabilizing	0.999	D	0.701	prob.neutral	None	None	None	None	N
F/N	0.9985	likely_pathogenic	0.9977	pathogenic	-3.164	Highly Destabilizing	0.998	D	0.816	deleterious	None	None	None	None	N
F/P	1.0	likely_pathogenic	1.0	pathogenic	-2.108	Highly Destabilizing	0.998	D	0.831	deleterious	None	None	None	None	N
F/Q	0.9996	likely_pathogenic	0.9992	pathogenic	-3.026	Highly Destabilizing	0.998	D	0.834	deleterious	None	None	None	None	N
F/R	0.9992	likely_pathogenic	0.9988	pathogenic	-2.131	Highly Destabilizing	0.993	D	0.823	deleterious	None	None	None	None	N
F/S	0.9988	likely_pathogenic	0.9984	pathogenic	-3.664	Highly Destabilizing	0.991	D	0.775	deleterious	D	0.534300193	None	None	N
F/T	0.9994	likely_pathogenic	0.9991	pathogenic	-3.302	Highly Destabilizing	0.993	D	0.777	deleterious	None	None	None	None	N
F/V	0.9817	likely_pathogenic	0.981	pathogenic	-2.108	Highly Destabilizing	0.939	D	0.684	prob.neutral	N	0.470279148	None	None	N
F/W	0.9136	likely_pathogenic	0.9107	pathogenic	-0.691	Destabilizing	0.998	D	0.703	prob.neutral	None	None	None	None	N
F/Y	0.343	ambiguous	0.3895	ambiguous	-1.161	Destabilizing	0.046	N	0.251	neutral	N	0.484480426	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.