TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30933	93022;93023;93024	chr2:178548829;178548828;178548827	chr2:179413556;179413555;179413554
N2AB	29292	88099;88100;88101	chr2:178548829;178548828;178548827	chr2:179413556;179413555;179413554
N2A	28365	85318;85319;85320	chr2:178548829;178548828;178548827	chr2:179413556;179413555;179413554
N2B	21868	65827;65828;65829	chr2:178548829;178548828;178548827	chr2:179413556;179413555;179413554
Novex-1	21993	66202;66203;66204	chr2:178548829;178548828;178548827	chr2:179413556;179413555;179413554
Novex-2	22060	66403;66404;66405	chr2:178548829;178548828;178548827	chr2:179413556;179413555;179413554
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-150
• Domain position: 7
• Structural Position: 9
• Q(SASA): 0.7772
• 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/H	rs1553532340	None	0.999	N	0.603	0.508	0.368369118721	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-06	0	0
Q/P	None	None	0.999	D	0.573	0.636	0.517158968016	gnomAD-4.0.0	1.36915E-06	None	None	None	None	I	None	2.98775E-05	2.23634E-05	None	0	0	None	0	0	0	0	0
Q/R	None	None	0.997	N	0.563	0.481	0.219573609325	gnomAD-4.0.0	1.36915E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.79889E-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
Q/A	0.3346	likely_benign	0.3203	benign	-0.66	Destabilizing	0.997	D	0.545	neutral	None	None	None	None	I
Q/C	0.9163	likely_pathogenic	0.8989	pathogenic	-0.181	Destabilizing	1.0	D	0.65	neutral	None	None	None	None	I
Q/D	0.6336	likely_pathogenic	0.6072	pathogenic	-0.08	Destabilizing	0.997	D	0.569	neutral	None	None	None	None	I
Q/E	0.1763	likely_benign	0.1575	benign	0.033	Stabilizing	0.992	D	0.497	neutral	N	0.480859855	None	None	I
Q/F	0.9211	likely_pathogenic	0.9099	pathogenic	-0.5	Destabilizing	0.999	D	0.624	neutral	None	None	None	None	I
Q/G	0.4415	ambiguous	0.4194	ambiguous	-0.977	Destabilizing	0.997	D	0.471	neutral	None	None	None	None	I
Q/H	0.5054	ambiguous	0.4801	ambiguous	-0.482	Destabilizing	0.999	D	0.603	neutral	N	0.498583252	None	None	I
Q/I	0.6771	likely_pathogenic	0.6619	pathogenic	0.143	Stabilizing	0.999	D	0.634	neutral	None	None	None	None	I
Q/K	0.22	likely_benign	0.1868	benign	-0.034	Destabilizing	0.997	D	0.537	neutral	N	0.426177221	None	None	I
Q/L	0.2566	likely_benign	0.2545	benign	0.143	Stabilizing	0.997	D	0.471	neutral	N	0.487480436	None	None	I
Q/M	0.4741	ambiguous	0.4637	ambiguous	0.229	Stabilizing	0.999	D	0.601	neutral	None	None	None	None	I
Q/N	0.3863	ambiguous	0.3869	ambiguous	-0.689	Destabilizing	0.999	D	0.553	neutral	None	None	None	None	I
Q/P	0.22	likely_benign	0.1903	benign	-0.095	Destabilizing	0.999	D	0.573	neutral	D	0.53180875	None	None	I
Q/R	0.2989	likely_benign	0.2553	benign	0.063	Stabilizing	0.997	D	0.563	neutral	N	0.42394778	None	None	I
Q/S	0.3749	ambiguous	0.3725	ambiguous	-0.84	Destabilizing	0.997	D	0.545	neutral	None	None	None	None	I
Q/T	0.3306	likely_benign	0.3147	benign	-0.521	Destabilizing	0.999	D	0.536	neutral	None	None	None	None	I
Q/V	0.4594	ambiguous	0.4434	ambiguous	-0.095	Destabilizing	0.999	D	0.485	neutral	None	None	None	None	I
Q/W	0.9105	likely_pathogenic	0.8931	pathogenic	-0.379	Destabilizing	1.0	D	0.609	neutral	None	None	None	None	I
Q/Y	0.7831	likely_pathogenic	0.7564	pathogenic	-0.127	Destabilizing	0.999	D	0.569	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.