TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	7542	22849;22850;22851	chr2:178722039;178722038;178722037	chr2:179586766;179586765;179586764
N2AB	7225	21898;21899;21900	chr2:178722039;178722038;178722037	chr2:179586766;179586765;179586764
N2A	6298	19117;19118;19119	chr2:178722039;178722038;178722037	chr2:179586766;179586765;179586764
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: Q
• RefSeq wild type transcript codon: CAA
• RefSeq wild type template codon: GTT
• Domain: Ig-60
• Domain position: 28
• Structural Position: 42
• Q(SASA): 0.8132
• Predicted PPI site: I

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
Q/P	None	None	0.003	N	0.153	0.255	0.112648838833	gnomAD-4.0.0	1.59226E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	0	1.4346E-05	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
Q/A	0.1666	likely_benign	0.1742	benign	-0.12	Destabilizing	0.002	N	0.092	neutral	None	None	None	None	I
Q/C	0.8079	likely_pathogenic	0.8255	pathogenic	0.124	Stabilizing	0.965	D	0.329	neutral	None	None	None	None	I
Q/D	0.3639	ambiguous	0.3894	ambiguous	-0.08	Destabilizing	0.002	N	0.152	neutral	None	None	None	None	I
Q/E	0.0777	likely_benign	0.0795	benign	-0.131	Destabilizing	0.166	N	0.285	neutral	N	0.439415877	None	None	I
Q/F	0.6592	likely_pathogenic	0.6674	pathogenic	-0.443	Destabilizing	0.818	D	0.401	neutral	None	None	None	None	I
Q/G	0.3107	likely_benign	0.3323	benign	-0.257	Destabilizing	0.345	N	0.253	neutral	None	None	None	None	I
Q/H	0.2606	likely_benign	0.2871	benign	-0.066	Destabilizing	0.954	D	0.421	neutral	N	0.447883432	None	None	I
Q/I	0.3605	ambiguous	0.3595	ambiguous	0.147	Stabilizing	0.39	N	0.339	neutral	None	None	None	None	I
Q/K	0.1159	likely_benign	0.1248	benign	0.054	Stabilizing	0.285	N	0.349	neutral	N	0.4429949	None	None	I
Q/L	0.1191	likely_benign	0.1236	benign	0.147	Stabilizing	0.001	N	0.097	neutral	N	0.417003165	None	None	I
Q/M	0.3563	ambiguous	0.3557	ambiguous	0.244	Stabilizing	0.047	N	0.221	neutral	None	None	None	None	I
Q/N	0.3175	likely_benign	0.323	benign	-0.099	Destabilizing	0.561	D	0.395	neutral	None	None	None	None	I
Q/P	0.092	likely_benign	0.101	benign	0.083	Stabilizing	0.003	N	0.153	neutral	N	0.250026814	None	None	I
Q/R	0.1356	likely_benign	0.1489	benign	0.276	Stabilizing	0.662	D	0.409	neutral	N	0.456521558	None	None	I
Q/S	0.2103	likely_benign	0.2238	benign	-0.118	Destabilizing	0.209	N	0.305	neutral	None	None	None	None	I
Q/T	0.2176	likely_benign	0.2209	benign	-0.04	Destabilizing	0.345	N	0.305	neutral	None	None	None	None	I
Q/V	0.2246	likely_benign	0.2238	benign	0.083	Stabilizing	0.209	N	0.247	neutral	None	None	None	None	I
Q/W	0.5918	likely_pathogenic	0.637	pathogenic	-0.481	Destabilizing	0.991	D	0.311	neutral	None	None	None	None	I
Q/Y	0.4684	ambiguous	0.4911	ambiguous	-0.208	Destabilizing	0.965	D	0.408	neutral	None	None	None	None	I

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.