TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4926	15001;15002;15003	chr2:178735670;178735669;178735668	chr2:179600397;179600396;179600395
N2AB	4609	14050;14051;14052	chr2:178735670;178735669;178735668	chr2:179600397;179600396;179600395
N2A	3682	11269;11270;11271	chr2:178735670;178735669;178735668	chr2:179600397;179600396;179600395
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-32
• Domain position: 39
• Structural Position: 55
• Q(SASA): 0.5707
• 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
Q/P	rs751919672	0.22	0.662	D	0.357	0.416	0.507928266286	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	5.58E-05	None	0	None	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
Q/A	0.2032	likely_benign	0.2556	benign	-0.137	Destabilizing	0.187	N	0.319	neutral	None	None	None	None	N
Q/C	0.4164	ambiguous	0.5156	ambiguous	0.095	Stabilizing	0.991	D	0.266	neutral	None	None	None	None	N
Q/D	0.3234	likely_benign	0.433	ambiguous	0.073	Stabilizing	0.209	N	0.197	neutral	None	None	None	None	N
Q/E	0.0885	likely_benign	0.1036	benign	0.033	Stabilizing	0.08	N	0.177	neutral	N	0.482466204	None	None	N
Q/F	0.4682	ambiguous	0.5763	pathogenic	-0.456	Destabilizing	0.901	D	0.348	neutral	None	None	None	None	N
Q/G	0.2113	likely_benign	0.2783	benign	-0.286	Destabilizing	0.209	N	0.311	neutral	None	None	None	None	N
Q/H	0.1496	likely_benign	0.1862	benign	-0.152	Destabilizing	0.003	N	0.194	neutral	N	0.516218141	None	None	N
Q/I	0.2259	likely_benign	0.2626	benign	0.158	Stabilizing	0.722	D	0.381	neutral	None	None	None	None	N
Q/K	0.0773	likely_benign	0.0874	benign	0.114	Stabilizing	None	N	0.143	neutral	N	0.396433991	None	None	N
Q/L	0.1069	likely_benign	0.1254	benign	0.158	Stabilizing	0.285	N	0.3	neutral	N	0.517006805	None	None	N
Q/M	0.2645	likely_benign	0.3013	benign	0.298	Stabilizing	0.965	D	0.18	neutral	None	None	None	None	N
Q/N	0.2039	likely_benign	0.2578	benign	-0.224	Destabilizing	0.002	N	0.177	neutral	None	None	None	None	N
Q/P	0.2861	likely_benign	0.3954	ambiguous	0.086	Stabilizing	0.662	D	0.357	neutral	D	0.628711969	None	None	N
Q/R	0.0902	likely_benign	0.1062	benign	0.261	Stabilizing	0.001	N	0.187	neutral	N	0.506227387	None	None	N
Q/S	0.2293	likely_benign	0.2924	benign	-0.205	Destabilizing	0.103	N	0.201	neutral	None	None	None	None	N
Q/T	0.1905	likely_benign	0.2323	benign	-0.098	Destabilizing	0.345	N	0.318	neutral	None	None	None	None	N
Q/V	0.1772	likely_benign	0.2075	benign	0.086	Stabilizing	0.722	D	0.345	neutral	None	None	None	None	N
Q/W	0.3255	likely_benign	0.4303	ambiguous	-0.484	Destabilizing	0.991	D	0.265	neutral	None	None	None	None	N
Q/Y	0.2944	likely_benign	0.3794	ambiguous	-0.202	Destabilizing	0.39	N	0.362	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.