TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7113	21562;21563;21564	chr2:178723922;178723921;178723920	chr2:179588649;179588648;179588647
N2AB	6796	20611;20612;20613	chr2:178723922;178723921;178723920	chr2:179588649;179588648;179588647
N2A	5869	17830;17831;17832	chr2:178723922;178723921;178723920	chr2:179588649;179588648;179588647
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: AAT
• RefSeq wild type template codon: TTA
• Domain: Ig-55
• Domain position: 70
• Structural Position: 153
• Q(SASA): 0.346
• 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/D	rs1309672541	-1.254	0.012	N	0.348	0.119	0.0297737177859	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.91E-06	0
N/D	rs1309672541	-1.254	0.012	N	0.348	0.119	0.0297737177859	gnomAD-4.0.0	3.18407E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86E-06	0	3.0259E-05

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	0.1207	likely_benign	0.1309	benign	-0.979	Destabilizing	0.007	N	0.321	neutral	None	None	None	None	N
N/C	0.1666	likely_benign	0.1925	benign	-0.053	Destabilizing	0.356	N	0.525	neutral	None	None	None	None	N
N/D	0.0799	likely_benign	0.0832	benign	-1.004	Destabilizing	0.012	N	0.348	neutral	N	0.456886917	None	None	N
N/E	0.1681	likely_benign	0.1709	benign	-0.887	Destabilizing	0.016	N	0.337	neutral	None	None	None	None	N
N/F	0.2347	likely_benign	0.2523	benign	-0.651	Destabilizing	0.214	N	0.579	neutral	None	None	None	None	N
N/G	0.1668	likely_benign	0.1863	benign	-1.339	Destabilizing	None	N	0.13	neutral	None	None	None	None	N
N/H	0.0701	likely_benign	0.0721	benign	-1.082	Destabilizing	None	N	0.258	neutral	N	0.512433556	None	None	N
N/I	0.1058	likely_benign	0.1121	benign	-0.047	Destabilizing	0.055	N	0.557	neutral	N	0.450787664	None	None	N
N/K	0.1628	likely_benign	0.1621	benign	-0.418	Destabilizing	0.012	N	0.338	neutral	N	0.450227517	None	None	N
N/L	0.133	likely_benign	0.136	benign	-0.047	Destabilizing	0.016	N	0.426	neutral	None	None	None	None	N
N/M	0.1988	likely_benign	0.213	benign	0.482	Stabilizing	0.628	D	0.532	neutral	None	None	None	None	N
N/P	0.2609	likely_benign	0.2752	benign	-0.329	Destabilizing	0.072	N	0.513	neutral	None	None	None	None	N
N/Q	0.1717	likely_benign	0.1769	benign	-1.019	Destabilizing	0.072	N	0.398	neutral	None	None	None	None	N
N/R	0.1526	likely_benign	0.1515	benign	-0.467	Destabilizing	0.072	N	0.341	neutral	None	None	None	None	N
N/S	0.0644	likely_benign	0.0689	benign	-1.057	Destabilizing	None	N	0.134	neutral	N	0.433028623	None	None	N
N/T	0.0842	likely_benign	0.0906	benign	-0.751	Destabilizing	None	N	0.125	neutral	N	0.391451359	None	None	N
N/V	0.1199	likely_benign	0.126	benign	-0.329	Destabilizing	0.038	N	0.481	neutral	None	None	None	None	N
N/W	0.4059	ambiguous	0.4354	ambiguous	-0.428	Destabilizing	0.864	D	0.546	neutral	None	None	None	None	N
N/Y	0.0903	likely_benign	0.0922	benign	-0.215	Destabilizing	0.093	N	0.588	neutral	N	0.500755125	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.