TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5598	17017;17018;17019	chr2:178732177;178732176;178732175	chr2:179596904;179596903;179596902
N2AB	5281	16066;16067;16068	chr2:178732177;178732176;178732175	chr2:179596904;179596903;179596902
N2A	4354	13285;13286;13287	chr2:178732177;178732176;178732175	chr2:179596904;179596903;179596902
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: T
• RefSeq wild type transcript codon: ACT
• RefSeq wild type template codon: TGA
• Domain: Ig-39
• Domain position: 56
• Structural Position: 135
• Q(SASA): 0.2704
• 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
T/A	rs1407842307	-1.188	None	N	0.088	0.154	0.0806252709748	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.89E-06	0
T/A	rs1407842307	-1.188	None	N	0.088	0.154	0.0806252709748	gnomAD-4.0.0	1.36841E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.79894E-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
T/A	0.0772	likely_benign	0.0777	benign	-1.027	Destabilizing	None	N	0.088	neutral	N	0.497984178	None	None	N
T/C	0.3208	likely_benign	0.3202	benign	-0.659	Destabilizing	0.667	D	0.517	neutral	None	None	None	None	N
T/D	0.2943	likely_benign	0.2848	benign	-0.593	Destabilizing	0.055	N	0.465	neutral	None	None	None	None	N
T/E	0.19	likely_benign	0.1755	benign	-0.538	Destabilizing	0.002	N	0.165	neutral	None	None	None	None	N
T/F	0.1614	likely_benign	0.1639	benign	-0.938	Destabilizing	0.22	N	0.607	neutral	None	None	None	None	N
T/G	0.2427	likely_benign	0.2375	benign	-1.336	Destabilizing	0.055	N	0.473	neutral	None	None	None	None	N
T/H	0.1771	likely_benign	0.1702	benign	-1.605	Destabilizing	0.497	N	0.579	neutral	None	None	None	None	N
T/I	0.0903	likely_benign	0.0906	benign	-0.273	Destabilizing	None	N	0.154	neutral	N	0.43497285	None	None	N
T/K	0.1184	likely_benign	0.112	benign	-0.761	Destabilizing	0.055	N	0.453	neutral	None	None	None	None	N
T/L	0.0767	likely_benign	0.0772	benign	-0.273	Destabilizing	None	N	0.148	neutral	None	None	None	None	N
T/M	0.0724	likely_benign	0.0716	benign	-0.015	Destabilizing	0.497	N	0.521	neutral	None	None	None	None	N
T/N	0.1136	likely_benign	0.1114	benign	-0.869	Destabilizing	0.001	N	0.128	neutral	N	0.438821232	None	None	N
T/P	0.3441	ambiguous	0.3648	ambiguous	-0.492	Destabilizing	0.301	N	0.556	neutral	N	0.473704596	None	None	N
T/Q	0.1547	likely_benign	0.144	benign	-0.967	Destabilizing	0.22	N	0.564	neutral	None	None	None	None	N
T/R	0.0895	likely_benign	0.0877	benign	-0.647	Destabilizing	0.22	N	0.534	neutral	None	None	None	None	N
T/S	0.1033	likely_benign	0.102	benign	-1.156	Destabilizing	0.042	N	0.312	neutral	N	0.431297826	None	None	N
T/V	0.08	likely_benign	0.0787	benign	-0.492	Destabilizing	None	N	0.093	neutral	None	None	None	None	N
T/W	0.4198	ambiguous	0.4134	ambiguous	-0.889	Destabilizing	0.958	D	0.571	neutral	None	None	None	None	N
T/Y	0.1856	likely_benign	0.1791	benign	-0.635	Destabilizing	0.667	D	0.609	neutral	None	None	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.