TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5624	17095;17096;17097	chr2:178732099;178732098;178732097	chr2:179596826;179596825;179596824
N2AB	5307	16144;16145;16146	chr2:178732099;178732098;178732097	chr2:179596826;179596825;179596824
N2A	4380	13363;13364;13365	chr2:178732099;178732098;178732097	chr2:179596826;179596825;179596824
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: AGT
• RefSeq wild type template codon: TCA
• Domain: Ig-39
• Domain position: 82
• Structural Position: 165
• Q(SASA): 0.5323
• 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/N	None	None	0.004	N	0.196	0.157	0.190952846119	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.3125E-06	0	0
S/T	None	None	0.002	N	0.147	0.054	0.177238962908	gnomAD-4.0.0	6.00161E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	6.56251E-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	0.08	likely_benign	0.0821	benign	-0.372	Destabilizing	0.25	N	0.369	neutral	None	None	None	None	N
S/C	0.1169	likely_benign	0.1309	benign	-0.204	Destabilizing	0.99	D	0.488	neutral	N	0.512941752	None	None	N
S/D	0.3001	likely_benign	0.2771	benign	-0.549	Destabilizing	0.447	N	0.315	neutral	None	None	None	None	N
S/E	0.3629	ambiguous	0.3239	benign	-0.638	Destabilizing	0.447	N	0.333	neutral	None	None	None	None	N
S/F	0.1495	likely_benign	0.1542	benign	-0.909	Destabilizing	0.92	D	0.557	neutral	None	None	None	None	N
S/G	0.0876	likely_benign	0.0926	benign	-0.504	Destabilizing	0.379	N	0.301	neutral	D	0.527069535	None	None	N
S/H	0.2009	likely_benign	0.1973	benign	-1.05	Destabilizing	0.85	D	0.465	neutral	None	None	None	None	N
S/I	0.1327	likely_benign	0.1324	benign	-0.146	Destabilizing	0.681	D	0.551	neutral	N	0.502977799	None	None	N
S/K	0.3095	likely_benign	0.2713	benign	-0.621	Destabilizing	0.005	N	0.19	neutral	None	None	None	None	N
S/L	0.0941	likely_benign	0.0976	benign	-0.146	Destabilizing	0.447	N	0.513	neutral	None	None	None	None	N
S/M	0.1597	likely_benign	0.1694	benign	0.296	Stabilizing	0.977	D	0.465	neutral	None	None	None	None	N
S/N	0.0974	likely_benign	0.0975	benign	-0.368	Destabilizing	0.004	N	0.196	neutral	N	0.506078444	None	None	N
S/P	0.5482	ambiguous	0.5457	ambiguous	-0.193	Destabilizing	0.92	D	0.442	neutral	None	None	None	None	N
S/Q	0.295	likely_benign	0.2826	benign	-0.717	Destabilizing	0.85	D	0.396	neutral	None	None	None	None	N
S/R	0.2204	likely_benign	0.1968	benign	-0.287	Destabilizing	0.681	D	0.406	neutral	N	0.49306307	None	None	N
S/T	0.0704	likely_benign	0.0716	benign	-0.405	Destabilizing	0.002	N	0.147	neutral	N	0.505064866	None	None	N
S/V	0.1495	likely_benign	0.1556	benign	-0.193	Destabilizing	0.447	N	0.493	neutral	None	None	None	None	N
S/W	0.2409	likely_benign	0.2374	benign	-0.908	Destabilizing	0.992	D	0.612	neutral	None	None	None	None	N
S/Y	0.1467	likely_benign	0.1488	benign	-0.641	Destabilizing	0.92	D	0.556	neutral	None	None	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.