TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8079	24460;24461;24462	chr2:178718965;178718964;178718963	chr2:179583692;179583691;179583690
N2AB	7762	23509;23510;23511	chr2:178718965;178718964;178718963	chr2:179583692;179583691;179583690
N2A	6835	20728;20729;20730	chr2:178718965;178718964;178718963	chr2:179583692;179583691;179583690
N2B	None	None	chr2:None	chr2:None
Novex-1	None	None	chr2:None	chr2:None
Novex-2	None	None	chr2:None	chr2:None
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: Ig-66
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.2779
• 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/F	None	None	1.0	N	0.837	0.44	0.713362601676	gnomAD-4.0.0	2.06633E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.71006E-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	0.0928	likely_benign	0.0904	benign	-0.428	Destabilizing	0.997	D	0.453	neutral	N	0.486275441	None	None	N
S/C	0.184	likely_benign	0.158	benign	-0.376	Destabilizing	1.0	D	0.778	deleterious	N	0.511434042	None	None	N
S/D	0.5554	ambiguous	0.534	ambiguous	0.519	Stabilizing	0.999	D	0.674	neutral	None	None	None	None	N
S/E	0.5505	ambiguous	0.5629	ambiguous	0.534	Stabilizing	0.999	D	0.658	neutral	None	None	None	None	N
S/F	0.1508	likely_benign	0.1424	benign	-0.778	Destabilizing	1.0	D	0.837	deleterious	N	0.515953492	None	None	N
S/G	0.1604	likely_benign	0.1518	benign	-0.651	Destabilizing	0.999	D	0.577	neutral	None	None	None	None	N
S/H	0.3453	ambiguous	0.3601	ambiguous	-0.929	Destabilizing	1.0	D	0.797	deleterious	None	None	None	None	N
S/I	0.1473	likely_benign	0.1458	benign	0.049	Stabilizing	1.0	D	0.814	deleterious	None	None	None	None	N
S/K	0.6469	likely_pathogenic	0.6787	pathogenic	-0.128	Destabilizing	0.999	D	0.66	neutral	None	None	None	None	N
S/L	0.1031	likely_benign	0.1017	benign	0.049	Stabilizing	1.0	D	0.73	prob.delet.	None	None	None	None	N
S/M	0.2409	likely_benign	0.2453	benign	-0.096	Destabilizing	1.0	D	0.793	deleterious	None	None	None	None	N
S/N	0.2722	likely_benign	0.2439	benign	-0.223	Destabilizing	0.999	D	0.651	neutral	None	None	None	None	N
S/P	0.9414	likely_pathogenic	0.9175	pathogenic	-0.077	Destabilizing	1.0	D	0.809	deleterious	D	0.533639673	None	None	N
S/Q	0.498	ambiguous	0.5253	ambiguous	-0.229	Destabilizing	1.0	D	0.789	deleterious	None	None	None	None	N
S/R	0.5026	ambiguous	0.5205	ambiguous	-0.124	Destabilizing	1.0	D	0.803	deleterious	None	None	None	None	N
S/T	0.0859	likely_benign	0.0892	benign	-0.252	Destabilizing	0.999	D	0.556	neutral	N	0.487681019	None	None	N
S/V	0.1436	likely_benign	0.1457	benign	-0.077	Destabilizing	1.0	D	0.801	deleterious	None	None	None	None	N
S/W	0.3764	ambiguous	0.3603	ambiguous	-0.834	Destabilizing	1.0	D	0.838	deleterious	None	None	None	None	N
S/Y	0.1816	likely_benign	0.1702	benign	-0.475	Destabilizing	1.0	D	0.835	deleterious	N	0.492569318	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.