TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30613	92062;92063;92064	chr2:178550001;178550000;178549999	chr2:179414728;179414727;179414726
N2AB	28972	87139;87140;87141	chr2:178550001;178550000;178549999	chr2:179414728;179414727;179414726
N2A	28045	84358;84359;84360	chr2:178550001;178550000;178549999	chr2:179414728;179414727;179414726
N2B	21548	64867;64868;64869	chr2:178550001;178550000;178549999	chr2:179414728;179414727;179414726
Novex-1	21673	65242;65243;65244	chr2:178550001;178550000;178549999	chr2:179414728;179414727;179414726
Novex-2	21740	65443;65444;65445	chr2:178550001;178550000;178549999	chr2:179414728;179414727;179414726
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: K
• RefSeq wild type transcript codon: AAA
• RefSeq wild type template codon: TTT
• Domain: Ig-149
• Domain position: 82
• Structural Position: 173
• Q(SASA): 0.591
• 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
K/E	None	None	0.006	N	0.227	0.093	0.21737058555	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

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
K/A	0.0994	likely_benign	0.1276	benign	-0.155	Destabilizing	0.002	N	0.268	neutral	None	None	None	None	N
K/C	0.3211	likely_benign	0.3629	ambiguous	-0.425	Destabilizing	0.245	N	0.515	neutral	None	None	None	None	N
K/D	0.2115	likely_benign	0.2848	benign	0.372	Stabilizing	0.004	N	0.313	neutral	None	None	None	None	N
K/E	0.0915	likely_benign	0.1211	benign	0.435	Stabilizing	0.006	N	0.227	neutral	N	0.430641679	None	None	N
K/F	0.3038	likely_benign	0.3894	ambiguous	-0.09	Destabilizing	0.044	N	0.591	neutral	None	None	None	None	N
K/G	0.2088	likely_benign	0.2576	benign	-0.433	Destabilizing	0.004	N	0.335	neutral	None	None	None	None	N
K/H	0.1254	likely_benign	0.1398	benign	-0.63	Destabilizing	0.138	N	0.501	neutral	None	None	None	None	N
K/I	0.1051	likely_benign	0.1292	benign	0.518	Stabilizing	0.007	N	0.485	neutral	N	0.481516003	None	None	N
K/L	0.1156	likely_benign	0.1352	benign	0.518	Stabilizing	None	N	0.201	neutral	None	None	None	None	N
K/M	0.0791	likely_benign	0.0972	benign	0.186	Stabilizing	0.138	N	0.501	neutral	None	None	None	None	N
K/N	0.1121	likely_benign	0.151	benign	0.006	Stabilizing	None	N	0.105	neutral	N	0.420947547	None	None	N
K/P	0.2874	likely_benign	0.3387	benign	0.324	Stabilizing	0.037	N	0.449	neutral	None	None	None	None	N
K/Q	0.0825	likely_benign	0.0955	benign	-0.084	Destabilizing	0.014	N	0.354	neutral	N	0.449595586	None	None	N
K/R	0.0708	likely_benign	0.0753	benign	-0.163	Destabilizing	0.014	N	0.297	neutral	N	0.451019738	None	None	N
K/S	0.1155	likely_benign	0.1532	benign	-0.613	Destabilizing	None	N	0.114	neutral	None	None	None	None	N
K/T	0.0486	likely_benign	0.0598	benign	-0.367	Destabilizing	None	N	0.139	neutral	N	0.406439454	None	None	N
K/V	0.1044	likely_benign	0.1236	benign	0.324	Stabilizing	0.004	N	0.375	neutral	None	None	None	None	N
K/W	0.3968	ambiguous	0.46	ambiguous	-0.027	Destabilizing	0.788	D	0.514	neutral	None	None	None	None	N
K/Y	0.2419	likely_benign	0.3	benign	0.298	Stabilizing	0.085	N	0.559	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.