TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6287	19084;19085;19086	chr2:178729297;178729296;178729295	chr2:179594024;179594023;179594022
N2AB	5970	18133;18134;18135	chr2:178729297;178729296;178729295	chr2:179594024;179594023;179594022
N2A	5043	15352;15353;15354	chr2:178729297;178729296;178729295	chr2:179594024;179594023;179594022
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: GCC
• RefSeq wild type template codon: CGG
• Domain: Ig-46
• Domain position: 89
• Structural Position: 175
• Q(SASA): 0.2989
• 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
A/T	None	None	None	N	0.107	0.082	0.0551355673512	gnomAD-4.0.0	1.64281E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.95342E-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	0.2876	likely_benign	0.2903	benign	-0.976	Destabilizing	0.356	N	0.401	neutral	None	None	None	None	N
A/D	0.155	likely_benign	0.154	benign	-1.181	Destabilizing	0.012	N	0.313	neutral	N	0.431272744	None	None	N
A/E	0.1633	likely_benign	0.1598	benign	-1.236	Destabilizing	0.016	N	0.327	neutral	None	None	None	None	N
A/F	0.1233	likely_benign	0.1264	benign	-1.032	Destabilizing	0.356	N	0.357	neutral	None	None	None	None	N
A/G	0.1054	likely_benign	0.1032	benign	-1.138	Destabilizing	0.012	N	0.282	neutral	N	0.491225125	None	None	N
A/H	0.226	likely_benign	0.2346	benign	-1.246	Destabilizing	0.001	N	0.26	neutral	None	None	None	None	N
A/I	0.1047	likely_benign	0.1076	benign	-0.435	Destabilizing	0.072	N	0.342	neutral	None	None	None	None	N
A/K	0.2805	likely_benign	0.2846	benign	-1.239	Destabilizing	0.001	N	0.175	neutral	None	None	None	None	N
A/L	0.087	likely_benign	0.0918	benign	-0.435	Destabilizing	0.031	N	0.329	neutral	None	None	None	None	N
A/M	0.1261	likely_benign	0.1298	benign	-0.384	Destabilizing	0.628	D	0.349	neutral	None	None	None	None	N
A/N	0.1056	likely_benign	0.1096	benign	-0.924	Destabilizing	0.001	N	0.237	neutral	None	None	None	None	N
A/P	0.4524	ambiguous	0.4333	ambiguous	-0.551	Destabilizing	0.055	N	0.346	neutral	N	0.509810885	None	None	N
A/Q	0.2043	likely_benign	0.2035	benign	-1.127	Destabilizing	0.072	N	0.347	neutral	None	None	None	None	N
A/R	0.2351	likely_benign	0.2349	benign	-0.837	Destabilizing	0.038	N	0.317	neutral	None	None	None	None	N
A/S	0.0652	likely_benign	0.0656	benign	-1.258	Destabilizing	None	N	0.079	neutral	N	0.408299884	None	None	N
A/T	0.0643	likely_benign	0.0651	benign	-1.224	Destabilizing	None	N	0.107	neutral	N	0.353521249	None	None	N
A/V	0.0796	likely_benign	0.0791	benign	-0.551	Destabilizing	0.055	N	0.301	neutral	N	0.426538928	None	None	N
A/W	0.4105	ambiguous	0.4035	ambiguous	-1.313	Destabilizing	0.864	D	0.41	neutral	None	None	None	None	N
A/Y	0.1873	likely_benign	0.1986	benign	-0.943	Destabilizing	0.214	N	0.35	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.