TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	18036	54331;54332;54333	chr2:178605071;178605070;178605069	chr2:179469798;179469797;179469796
N2AB	16395	49408;49409;49410	chr2:178605071;178605070;178605069	chr2:179469798;179469797;179469796
N2A	15468	46627;46628;46629	chr2:178605071;178605070;178605069	chr2:179469798;179469797;179469796
N2B	8971	27136;27137;27138	chr2:178605071;178605070;178605069	chr2:179469798;179469797;179469796
Novex-1	9096	27511;27512;27513	chr2:178605071;178605070;178605069	chr2:179469798;179469797;179469796
Novex-2	9163	27712;27713;27714	chr2:178605071;178605070;178605069	chr2:179469798;179469797;179469796
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: V
• RefSeq wild type transcript codon: GTC
• RefSeq wild type template codon: CAG
• Domain: Ig-114
• Domain position: 69
• Structural Position: 145
• Q(SASA): 0.2736
• 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
V/A	None	None	None	N	0.079	0.074	0.240491677333	gnomAD-4.0.0	1.59373E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.863E-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
V/A	0.0902	likely_benign	0.0886	benign	-0.805	Destabilizing	None	N	0.079	neutral	N	0.494557084	None	None	N
V/C	0.4583	ambiguous	0.4391	ambiguous	-0.66	Destabilizing	0.356	N	0.385	neutral	None	None	None	None	N
V/D	0.1946	likely_benign	0.1703	benign	-0.647	Destabilizing	0.012	N	0.419	neutral	N	0.475875323	None	None	N
V/E	0.1492	likely_benign	0.1351	benign	-0.757	Destabilizing	0.016	N	0.371	neutral	None	None	None	None	N
V/F	0.1401	likely_benign	0.1196	benign	-0.962	Destabilizing	0.171	N	0.445	neutral	N	0.472432373	None	None	N
V/G	0.0999	likely_benign	0.089	benign	-0.973	Destabilizing	0.012	N	0.426	neutral	N	0.495423876	None	None	N
V/H	0.2814	likely_benign	0.2564	benign	-0.519	Destabilizing	0.356	N	0.508	neutral	None	None	None	None	N
V/I	0.0716	likely_benign	0.0699	benign	-0.5	Destabilizing	0.012	N	0.291	neutral	N	0.512913558	None	None	N
V/K	0.1058	likely_benign	0.1013	benign	-0.69	Destabilizing	None	N	0.157	neutral	None	None	None	None	N
V/L	0.1022	likely_benign	0.0916	benign	-0.5	Destabilizing	None	N	0.111	neutral	N	0.495770592	None	None	N
V/M	0.0968	likely_benign	0.0886	benign	-0.338	Destabilizing	0.214	N	0.298	neutral	None	None	None	None	N
V/N	0.0998	likely_benign	0.0892	benign	-0.393	Destabilizing	None	N	0.185	neutral	None	None	None	None	N
V/P	0.6782	likely_pathogenic	0.6723	pathogenic	-0.566	Destabilizing	0.072	N	0.489	neutral	None	None	None	None	N
V/Q	0.1178	likely_benign	0.1099	benign	-0.684	Destabilizing	0.001	N	0.226	neutral	None	None	None	None	N
V/R	0.1177	likely_benign	0.108	benign	-0.086	Destabilizing	0.038	N	0.477	neutral	None	None	None	None	N
V/S	0.0835	likely_benign	0.0771	benign	-0.776	Destabilizing	0.007	N	0.351	neutral	None	None	None	None	N
V/T	0.0751	likely_benign	0.073	benign	-0.789	Destabilizing	None	N	0.077	neutral	None	None	None	None	N
V/W	0.6815	likely_pathogenic	0.6234	pathogenic	-1.032	Destabilizing	0.864	D	0.482	neutral	None	None	None	None	N
V/Y	0.3875	ambiguous	0.3571	ambiguous	-0.745	Destabilizing	0.356	N	0.428	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.