TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17266	52021;52022;52023	chr2:178609514;178609513;178609512	chr2:179474241;179474240;179474239
N2AB	15625	47098;47099;47100	chr2:178609514;178609513;178609512	chr2:179474241;179474240;179474239
N2A	14698	44317;44318;44319	chr2:178609514;178609513;178609512	chr2:179474241;179474240;179474239
N2B	8201	24826;24827;24828	chr2:178609514;178609513;178609512	chr2:179474241;179474240;179474239
Novex-1	8326	25201;25202;25203	chr2:178609514;178609513;178609512	chr2:179474241;179474240;179474239
Novex-2	8393	25402;25403;25404	chr2:178609514;178609513;178609512	chr2:179474241;179474240;179474239
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: A
• RefSeq wild type transcript codon: GCA
• RefSeq wild type template codon: CGT
• Domain: Ig-112
• Domain position: 16
• Structural Position: 29
• Q(SASA): 0.3076
• 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
A/T	None	None	None	N	0.319	0.091	0.0884992946249	gnomAD-4.0.0	1.20033E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31251E-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
A/C	0.2446	likely_benign	0.248	benign	-1.105	Destabilizing	0.001	N	0.36	neutral	None	None	None	None	N
A/D	0.2385	likely_benign	0.2392	benign	-1.835	Destabilizing	0.001	N	0.439	neutral	None	None	None	None	N
A/E	0.2023	likely_benign	0.1973	benign	-1.787	Destabilizing	None	N	0.301	neutral	N	0.417476727	None	None	N
A/F	0.1589	likely_benign	0.1606	benign	-0.951	Destabilizing	0.076	N	0.591	neutral	None	None	None	None	N
A/G	0.145	likely_benign	0.1485	benign	-1.376	Destabilizing	0.025	N	0.47	neutral	N	0.49688166	None	None	N
A/H	0.2691	likely_benign	0.2575	benign	-1.639	Destabilizing	0.54	D	0.535	neutral	None	None	None	None	N
A/I	0.1001	likely_benign	0.109	benign	-0.229	Destabilizing	None	N	0.274	neutral	None	None	None	None	N
A/K	0.2857	likely_benign	0.2646	benign	-1.603	Destabilizing	0.033	N	0.517	neutral	None	None	None	None	N
A/L	0.0911	likely_benign	0.0898	benign	-0.229	Destabilizing	None	N	0.275	neutral	None	None	None	None	N
A/M	0.133	likely_benign	0.1432	benign	-0.239	Destabilizing	0.015	N	0.37	neutral	None	None	None	None	N
A/N	0.178	likely_benign	0.1846	benign	-1.507	Destabilizing	0.076	N	0.596	neutral	None	None	None	None	N
A/P	0.4531	ambiguous	0.4276	ambiguous	-0.455	Destabilizing	None	N	0.321	neutral	N	0.4782959	None	None	N
A/Q	0.2188	likely_benign	0.2121	benign	-1.552	Destabilizing	0.076	N	0.544	neutral	None	None	None	None	N
A/R	0.2557	likely_benign	0.231	benign	-1.287	Destabilizing	None	N	0.29	neutral	None	None	None	None	N
A/S	0.0838	likely_benign	0.0869	benign	-1.84	Destabilizing	None	N	0.331	neutral	N	0.410281396	None	None	N
A/T	0.072	likely_benign	0.0747	benign	-1.686	Destabilizing	None	N	0.319	neutral	N	0.407334305	None	None	N
A/V	0.0752	likely_benign	0.0777	benign	-0.455	Destabilizing	None	N	0.305	neutral	N	0.413742989	None	None	N
A/W	0.4858	ambiguous	0.474	ambiguous	-1.467	Destabilizing	0.931	D	0.607	neutral	None	None	None	None	N
A/Y	0.2618	likely_benign	0.2691	benign	-1.006	Destabilizing	0.54	D	0.588	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.