TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6541	19846;19847;19848	chr2:178728203;178728202;178728201	chr2:179592930;179592929;179592928
N2AB	6224	18895;18896;18897	chr2:178728203;178728202;178728201	chr2:179592930;179592929;179592928
N2A	5297	16114;16115;16116	chr2:178728203;178728202;178728201	chr2:179592930;179592929;179592928
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-49
• Domain position: 61
• Structural Position: 141
• Q(SASA): 0.6836
• 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	rs1448829330	None	0.007	N	0.217	0.101	0.0884992946249	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	2.41E-05	0	0	0	0	None	0	0	0	0	0
N/D	rs1448829330	None	0.007	N	0.217	0.101	0.0884992946249	gnomAD-4.0.0	6.57376E-06	None	None	None	None	N	None	2.41348E-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
N/A	0.1266	likely_benign	0.1524	benign	-0.753	Destabilizing	None	N	0.143	neutral	None	None	None	None	N
N/C	0.1803	likely_benign	0.2186	benign	-0.048	Destabilizing	0.245	N	0.385	neutral	None	None	None	None	N
N/D	0.1023	likely_benign	0.1107	benign	-1.088	Destabilizing	0.007	N	0.217	neutral	N	0.491210135	None	None	N
N/E	0.2111	likely_benign	0.2326	benign	-0.996	Destabilizing	None	N	0.074	neutral	None	None	None	None	N
N/F	0.3123	likely_benign	0.3417	ambiguous	-0.672	Destabilizing	0.022	N	0.494	neutral	None	None	None	None	N
N/G	0.1719	likely_benign	0.2113	benign	-1.079	Destabilizing	0.004	N	0.165	neutral	None	None	None	None	N
N/H	0.085	likely_benign	0.0885	benign	-0.948	Destabilizing	0.108	N	0.266	neutral	N	0.511990839	None	None	N
N/I	0.1268	likely_benign	0.1365	benign	0.065	Stabilizing	0.007	N	0.376	neutral	N	0.483997716	None	None	N
N/K	0.1599	likely_benign	0.1786	benign	-0.227	Destabilizing	0.003	N	0.177	neutral	N	0.496442596	None	None	N
N/L	0.1478	likely_benign	0.1575	benign	0.065	Stabilizing	None	N	0.203	neutral	None	None	None	None	N
N/M	0.2147	likely_benign	0.2319	benign	0.615	Stabilizing	0.074	N	0.399	neutral	None	None	None	None	N
N/P	0.4008	ambiguous	0.4749	ambiguous	-0.178	Destabilizing	0.044	N	0.463	neutral	None	None	None	None	N
N/Q	0.1872	likely_benign	0.2075	benign	-1.004	Destabilizing	0.044	N	0.182	neutral	None	None	None	None	N
N/R	0.1642	likely_benign	0.1823	benign	-0.214	Destabilizing	None	N	0.084	neutral	None	None	None	None	N
N/S	0.0638	likely_benign	0.0718	benign	-0.877	Destabilizing	None	N	0.078	neutral	N	0.43495142	None	None	N
N/T	0.0875	likely_benign	0.0979	benign	-0.604	Destabilizing	0.003	N	0.177	neutral	N	0.488863263	None	None	N
N/V	0.1407	likely_benign	0.1551	benign	-0.178	Destabilizing	None	N	0.209	neutral	None	None	None	None	N
N/W	0.5075	ambiguous	0.5334	ambiguous	-0.487	Destabilizing	0.55	D	0.373	neutral	None	None	None	None	N
N/Y	0.1061	likely_benign	0.1098	benign	-0.218	Destabilizing	None	N	0.222	neutral	D	0.531480676	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.