TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7269	22030;22031;22032	chr2:178723202;178723201;178723200	chr2:179587929;179587928;179587927
N2AB	6952	21079;21080;21081	chr2:178723202;178723201;178723200	chr2:179587929;179587928;179587927
N2A	6025	18298;18299;18300	chr2:178723202;178723201;178723200	chr2:179587929;179587928;179587927
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: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Ig-57
• Domain position: 40
• Structural Position: 56
• Q(SASA): 0.5977
• 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
N/K	rs78990961	0.501	None	N	0.169	0.115	0.0482279557977	gnomAD-2.1.1	8.07E-06	None	None	None	None	N	None	0	5.81E-05	None	0	0	None	0	None	0	0	0
N/K	rs78990961	0.501	None	N	0.169	0.115	0.0482279557977	gnomAD-4.0.0	6.36795E-06	None	None	None	None	N	None	0	9.15499E-05	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
N/A	0.0905	likely_benign	0.0981	benign	-0.445	Destabilizing	None	N	0.175	neutral	None	None	None	None	N
N/C	0.1363	likely_benign	0.1336	benign	0.251	Stabilizing	None	N	0.329	neutral	None	None	None	None	N
N/D	0.0737	likely_benign	0.0779	benign	0.177	Stabilizing	None	N	0.182	neutral	N	0.441050673	None	None	N
N/E	0.1339	likely_benign	0.1401	benign	0.163	Stabilizing	None	N	0.161	neutral	None	None	None	None	N
N/F	0.2075	likely_benign	0.2259	benign	-0.668	Destabilizing	0.044	N	0.527	neutral	None	None	None	None	N
N/G	0.1402	likely_benign	0.1532	benign	-0.653	Destabilizing	0.004	N	0.175	neutral	None	None	None	None	N
N/H	0.0633	likely_benign	0.0655	benign	-0.604	Destabilizing	None	N	0.217	neutral	N	0.491172849	None	None	N
N/I	0.0835	likely_benign	0.0906	benign	0.023	Stabilizing	0.007	N	0.396	neutral	N	0.472933805	None	None	N
N/K	0.1172	likely_benign	0.1196	benign	0.015	Stabilizing	None	N	0.169	neutral	N	0.433969985	None	None	N
N/L	0.0916	likely_benign	0.0958	benign	0.023	Stabilizing	None	N	0.223	neutral	None	None	None	None	N
N/M	0.1615	likely_benign	0.1692	benign	0.312	Stabilizing	0.138	N	0.433	neutral	None	None	None	None	N
N/P	0.1262	likely_benign	0.1301	benign	-0.105	Destabilizing	None	N	0.206	neutral	None	None	None	None	N
N/Q	0.1317	likely_benign	0.137	benign	-0.443	Destabilizing	0.009	N	0.231	neutral	None	None	None	None	N
N/R	0.113	likely_benign	0.1186	benign	0.049	Stabilizing	0.009	N	0.226	neutral	None	None	None	None	N
N/S	0.0612	likely_benign	0.0647	benign	-0.28	Destabilizing	None	N	0.147	neutral	N	0.44588049	None	None	N
N/T	0.0733	likely_benign	0.0764	benign	-0.138	Destabilizing	None	N	0.129	neutral	N	0.465159684	None	None	N
N/V	0.093	likely_benign	0.0993	benign	-0.105	Destabilizing	None	N	0.235	neutral	None	None	None	None	N
N/W	0.3865	ambiguous	0.4122	ambiguous	-0.591	Destabilizing	0.788	D	0.416	neutral	None	None	None	None	N
N/Y	0.0842	likely_benign	0.0928	benign	-0.354	Destabilizing	0.017	N	0.496	neutral	N	0.506603662	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.