TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	35619	107080;107081;107082	chr2:178528896;178528895;178528894	chr2:179393623;179393622;179393621
N2AB	33978	102157;102158;102159	chr2:178528896;178528895;178528894	chr2:179393623;179393622;179393621
N2A	33051	99376;99377;99378	chr2:178528896;178528895;178528894	chr2:179393623;179393622;179393621
N2B	26554	79885;79886;79887	chr2:178528896;178528895;178528894	chr2:179393623;179393622;179393621
Novex-1	26679	80260;80261;80262	chr2:178528896;178528895;178528894	chr2:179393623;179393622;179393621
Novex-2	26746	80461;80462;80463	chr2:178528896;178528895;178528894	chr2:179393623;179393622;179393621
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-167
• Domain position: 13
• Structural Position: 18
• Q(SASA): 0.5533
• 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/H	None	None	0.196	N	0.33	0.031	0.139678290688	gnomAD-4.0.0	2.40064E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.625E-06	0	0
N/I	None	None	0.007	N	0.487	0.124	0.251639045875	gnomAD-4.0.0	6.84139E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99399E-06	0	0
N/K	rs116604145	None	0.008	N	0.177	0.152	0.0401082797425	gnomAD-4.0.0	1.36828E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.7988E-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
N/A	0.1188	likely_benign	0.1197	benign	-0.557	Destabilizing	None	N	0.221	neutral	None	None	None	None	N
N/C	0.2746	likely_benign	0.2779	benign	0.268	Stabilizing	0.245	N	0.531	neutral	None	None	None	None	N
N/D	0.1234	likely_benign	0.1231	benign	0.182	Stabilizing	0.006	N	0.175	neutral	N	0.430663108	None	None	N
N/E	0.2407	likely_benign	0.2359	benign	0.164	Stabilizing	0.004	N	0.171	neutral	None	None	None	None	N
N/F	0.3687	ambiguous	0.3584	ambiguous	-0.853	Destabilizing	0.085	N	0.539	neutral	None	None	None	None	N
N/G	0.182	likely_benign	0.1902	benign	-0.751	Destabilizing	0.002	N	0.189	neutral	None	None	None	None	N
N/H	0.1008	likely_benign	0.1012	benign	-0.728	Destabilizing	0.196	N	0.33	neutral	N	0.431183183	None	None	N
N/I	0.1641	likely_benign	0.1497	benign	-0.125	Destabilizing	0.007	N	0.487	neutral	N	0.431009825	None	None	N
N/K	0.169	likely_benign	0.1635	benign	0.167	Stabilizing	0.008	N	0.177	neutral	N	0.429276242	None	None	N
N/L	0.1388	likely_benign	0.1311	benign	-0.125	Destabilizing	0.004	N	0.42	neutral	None	None	None	None	N
N/M	0.2115	likely_benign	0.1994	benign	0.35	Stabilizing	0.245	N	0.517	neutral	None	None	None	None	N
N/P	0.2199	likely_benign	0.2069	benign	-0.242	Destabilizing	None	N	0.22	neutral	None	None	None	None	N
N/Q	0.2123	likely_benign	0.2092	benign	-0.396	Destabilizing	0.018	N	0.226	neutral	None	None	None	None	N
N/R	0.1694	likely_benign	0.1695	benign	0.232	Stabilizing	0.018	N	0.226	neutral	None	None	None	None	N
N/S	0.0577	likely_benign	0.0581	benign	-0.218	Destabilizing	None	N	0.116	neutral	N	0.390795211	None	None	N
N/T	0.0594	likely_benign	0.0575	benign	-0.075	Destabilizing	None	N	0.113	neutral	N	0.40051356	None	None	N
N/V	0.1646	likely_benign	0.153	benign	-0.242	Destabilizing	0.004	N	0.443	neutral	None	None	None	None	N
N/W	0.6194	likely_pathogenic	0.6026	pathogenic	-0.733	Destabilizing	0.788	D	0.505	neutral	None	None	None	None	N
N/Y	0.1479	likely_benign	0.1373	benign	-0.49	Destabilizing	0.065	N	0.511	neutral	N	0.4315299	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.