TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6166	18721;18722;18723	chr2:178729757;178729756;178729755	chr2:179594484;179594483;179594482
N2AB	5849	17770;17771;17772	chr2:178729757;178729756;178729755	chr2:179594484;179594483;179594482
N2A	4922	14989;14990;14991	chr2:178729757;178729756;178729755	chr2:179594484;179594483;179594482
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-45
• Domain position: 62
• Structural Position: 141
• Q(SASA): 0.4427
• 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/A	None	None	0.047	N	0.173	0.105	0.208000267992	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	None	0	0	None	0	0	0	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	0.0681	likely_benign	0.0686	benign	-0.499	Destabilizing	0.047	N	0.173	neutral	N	0.494463871	None	None	N
S/C	0.1268	likely_benign	0.1179	benign	-0.312	Destabilizing	0.001	N	0.098	neutral	D	0.532656899	None	None	N
S/D	0.1618	likely_benign	0.1655	benign	0.215	Stabilizing	0.418	N	0.237	neutral	None	None	None	None	N
S/E	0.2222	likely_benign	0.235	benign	0.116	Stabilizing	0.418	N	0.235	neutral	None	None	None	None	N
S/F	0.1127	likely_benign	0.114	benign	-1.156	Destabilizing	0.794	D	0.492	neutral	D	0.529616594	None	None	N
S/G	0.0818	likely_benign	0.0846	benign	-0.585	Destabilizing	0.228	N	0.233	neutral	None	None	None	None	N
S/H	0.159	likely_benign	0.166	benign	-1.147	Destabilizing	0.94	D	0.4	neutral	None	None	None	None	N
S/I	0.1064	likely_benign	0.1054	benign	-0.401	Destabilizing	0.01	N	0.227	neutral	None	None	None	None	N
S/K	0.2681	likely_benign	0.2775	benign	-0.346	Destabilizing	0.418	N	0.241	neutral	None	None	None	None	N
S/L	0.0756	likely_benign	0.0763	benign	-0.401	Destabilizing	0.061	N	0.319	neutral	None	None	None	None	N
S/M	0.1607	likely_benign	0.157	benign	-0.053	Destabilizing	0.836	D	0.419	neutral	None	None	None	None	N
S/N	0.0886	likely_benign	0.0877	benign	-0.078	Destabilizing	0.418	N	0.251	neutral	None	None	None	None	N
S/P	0.0883	likely_benign	0.0896	benign	-0.408	Destabilizing	0.523	D	0.439	neutral	N	0.49344515	None	None	N
S/Q	0.2378	likely_benign	0.2522	benign	-0.379	Destabilizing	0.836	D	0.337	neutral	None	None	None	None	N
S/R	0.1903	likely_benign	0.2076	benign	-0.173	Destabilizing	0.418	N	0.464	neutral	None	None	None	None	N
S/T	0.0669	likely_benign	0.0652	benign	-0.226	Destabilizing	None	N	0.067	neutral	N	0.446248636	None	None	N
S/V	0.1271	likely_benign	0.1258	benign	-0.408	Destabilizing	0.129	N	0.341	neutral	None	None	None	None	N
S/W	0.1607	likely_benign	0.1641	benign	-1.113	Destabilizing	0.983	D	0.463	neutral	None	None	None	None	N
S/Y	0.1086	likely_benign	0.1068	benign	-0.839	Destabilizing	0.794	D	0.48	neutral	N	0.516071294	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.