TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8627	26104;26105;26106	chr2:178715535;178715534;178715533	chr2:179580262;179580261;179580260
N2AB	8310	25153;25154;25155	chr2:178715535;178715534;178715533	chr2:179580262;179580261;179580260
N2A	7383	22372;22373;22374	chr2:178715535;178715534;178715533	chr2:179580262;179580261;179580260
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: A
• RefSeq wild type transcript codon: GCA
• RefSeq wild type template codon: CGT
• Domain: Ig-71
• Domain position: 79
• Structural Position: 162
• Q(SASA): 0.6995
• 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
A/V	rs1349154909	-0.088	0.008	N	0.202	0.169	0.431490205687	gnomAD-2.1.1	3.19E-05	None	None	None	None	I	None	0	0	None	0	0	None	0	None	0	6.48E-05	0
A/V	rs1349154909	-0.088	0.008	N	0.202	0.169	0.431490205687	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
A/V	rs1349154909	-0.088	0.008	N	0.202	0.169	0.431490205687	gnomAD-4.0.0	2.02993E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.40985E-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
A/C	0.5174	ambiguous	0.499	ambiguous	-0.902	Destabilizing	0.297	N	0.251	neutral	None	None	None	None	I
A/D	0.1198	likely_benign	0.1302	benign	-0.689	Destabilizing	None	N	0.143	neutral	None	None	None	None	I
A/E	0.1335	likely_benign	0.136	benign	-0.843	Destabilizing	0.003	N	0.315	neutral	N	0.427697374	None	None	I
A/F	0.2005	likely_benign	0.2	benign	-0.978	Destabilizing	0.295	N	0.358	neutral	None	None	None	None	I
A/G	0.1218	likely_benign	0.1215	benign	-0.3	Destabilizing	None	N	0.251	neutral	N	0.471413653	None	None	I
A/H	0.2643	likely_benign	0.2599	benign	-0.274	Destabilizing	0.56	D	0.357	neutral	None	None	None	None	I
A/I	0.1306	likely_benign	0.1318	benign	-0.475	Destabilizing	0.029	N	0.316	neutral	None	None	None	None	I
A/K	0.2095	likely_benign	0.207	benign	-0.665	Destabilizing	0.055	N	0.275	neutral	None	None	None	None	I
A/L	0.1062	likely_benign	0.1055	benign	-0.475	Destabilizing	0.029	N	0.28	neutral	None	None	None	None	I
A/M	0.1526	likely_benign	0.1531	benign	-0.6	Destabilizing	0.295	N	0.294	neutral	None	None	None	None	I
A/N	0.1428	likely_benign	0.1472	benign	-0.389	Destabilizing	0.001	N	0.361	neutral	None	None	None	None	I
A/P	0.1186	likely_benign	0.1105	benign	-0.389	Destabilizing	None	N	0.159	neutral	N	0.465757117	None	None	I
A/Q	0.1973	likely_benign	0.1914	benign	-0.667	Destabilizing	0.106	N	0.321	neutral	None	None	None	None	I
A/R	0.1992	likely_benign	0.1945	benign	-0.187	Destabilizing	0.055	N	0.318	neutral	None	None	None	None	I
A/S	0.0851	likely_benign	0.0859	benign	-0.549	Destabilizing	None	N	0.111	neutral	N	0.466426333	None	None	I
A/T	0.0725	likely_benign	0.0745	benign	-0.633	Destabilizing	None	N	0.119	neutral	N	0.497637462	None	None	I
A/V	0.0845	likely_benign	0.0839	benign	-0.389	Destabilizing	0.008	N	0.202	neutral	N	0.496714742	None	None	I
A/W	0.5026	ambiguous	0.5079	ambiguous	-1.075	Destabilizing	0.828	D	0.386	neutral	None	None	None	None	I
A/Y	0.2903	likely_benign	0.2901	benign	-0.768	Destabilizing	0.295	N	0.359	neutral	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.