TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	35427	106504;106505;106506	chr2:178530336;178530335;178530334	chr2:179395063;179395062;179395061
N2AB	33786	101581;101582;101583	chr2:178530336;178530335;178530334	chr2:179395063;179395062;179395061
N2A	32859	98800;98801;98802	chr2:178530336;178530335;178530334	chr2:179395063;179395062;179395061
N2B	26362	79309;79310;79311	chr2:178530336;178530335;178530334	chr2:179395063;179395062;179395061
Novex-1	26487	79684;79685;79686	chr2:178530336;178530335;178530334	chr2:179395063;179395062;179395061
Novex-2	26554	79885;79886;79887	chr2:178530336;178530335;178530334	chr2:179395063;179395062;179395061
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-166
• Domain position: 8
• Structural Position: 9
• Q(SASA): 0.3518
• Predicted PPI site: I

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
Q/R	None	None	None	N	0.075	0.077	0.178374595973	gnomAD-4.0.0	1.59097E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	2.85755E-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
Q/A	0.1904	likely_benign	0.2027	benign	-0.093	Destabilizing	0.003	N	0.168	neutral	None	None	None	None	I
Q/C	0.6311	likely_pathogenic	0.6756	pathogenic	0.063	Stabilizing	0.712	D	0.307	neutral	None	None	None	None	I
Q/D	0.3688	ambiguous	0.3735	ambiguous	-0.058	Destabilizing	0.012	N	0.227	neutral	None	None	None	None	I
Q/E	0.0833	likely_benign	0.0828	benign	-0.107	Destabilizing	0.002	N	0.139	neutral	N	0.468469348	None	None	I
Q/F	0.602	likely_pathogenic	0.6471	pathogenic	-0.447	Destabilizing	0.177	N	0.349	neutral	None	None	None	None	I
Q/G	0.2321	likely_benign	0.2486	benign	-0.226	Destabilizing	0.012	N	0.28	neutral	None	None	None	None	I
Q/H	0.1886	likely_benign	0.2076	benign	-0.064	Destabilizing	0.14	N	0.297	neutral	N	0.519418243	None	None	I
Q/I	0.3246	likely_benign	0.3546	ambiguous	0.16	Stabilizing	0.177	N	0.407	neutral	None	None	None	None	I
Q/K	0.0779	likely_benign	0.0782	benign	0.081	Stabilizing	None	N	0.083	neutral	N	0.428062733	None	None	I
Q/L	0.1297	likely_benign	0.1415	benign	0.16	Stabilizing	0.009	N	0.312	neutral	D	0.522015831	None	None	I
Q/M	0.3472	ambiguous	0.3774	ambiguous	0.234	Stabilizing	0.396	N	0.3	neutral	None	None	None	None	I
Q/N	0.265	likely_benign	0.2675	benign	-0.183	Destabilizing	0.012	N	0.227	neutral	None	None	None	None	I
Q/P	0.1896	likely_benign	0.1929	benign	0.101	Stabilizing	0.044	N	0.322	neutral	N	0.519418243	None	None	I
Q/R	0.0909	likely_benign	0.0982	benign	0.266	Stabilizing	None	N	0.075	neutral	N	0.471893655	None	None	I
Q/S	0.2299	likely_benign	0.2365	benign	-0.163	Destabilizing	None	N	0.089	neutral	None	None	None	None	I
Q/T	0.1852	likely_benign	0.1949	benign	-0.077	Destabilizing	0.012	N	0.311	neutral	None	None	None	None	I
Q/V	0.2359	likely_benign	0.259	benign	0.101	Stabilizing	0.029	N	0.353	neutral	None	None	None	None	I
Q/W	0.4486	ambiguous	0.5089	ambiguous	-0.496	Destabilizing	0.712	D	0.308	neutral	None	None	None	None	I
Q/Y	0.4059	ambiguous	0.4471	ambiguous	-0.207	Destabilizing	0.177	N	0.381	neutral	None	None	None	None	I

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.