TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	17320	52183;52184;52185	chr2:178609352;178609351;178609350	chr2:179474079;179474078;179474077
N2AB	15679	47260;47261;47262	chr2:178609352;178609351;178609350	chr2:179474079;179474078;179474077
N2A	14752	44479;44480;44481	chr2:178609352;178609351;178609350	chr2:179474079;179474078;179474077
N2B	8255	24988;24989;24990	chr2:178609352;178609351;178609350	chr2:179474079;179474078;179474077
Novex-1	8380	25363;25364;25365	chr2:178609352;178609351;178609350	chr2:179474079;179474078;179474077
Novex-2	8447	25564;25565;25566	chr2:178609352;178609351;178609350	chr2:179474079;179474078;179474077
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-112
• Domain position: 70
• Structural Position: 102
• Q(SASA): 0.4943
• 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/K	None	None	0.003	N	0.138	0.079	0.0482279557977	gnomAD-4.0.0	6.84892E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.16152E-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	0.1766	likely_benign	0.1888	benign	-0.638	Destabilizing	0.004	N	0.177	neutral	None	None	None	None	N
Q/C	0.6959	likely_pathogenic	0.7237	pathogenic	-0.1	Destabilizing	0.788	D	0.347	neutral	None	None	None	None	N
Q/D	0.2437	likely_benign	0.2481	benign	-1.038	Destabilizing	None	N	0.043	neutral	None	None	None	None	N
Q/E	0.06	likely_benign	0.0584	benign	-0.932	Destabilizing	None	N	0.047	neutral	N	0.347923429	None	None	N
Q/F	0.7843	likely_pathogenic	0.7866	pathogenic	-0.343	Destabilizing	0.497	N	0.476	neutral	None	None	None	None	N
Q/G	0.2332	likely_benign	0.2421	benign	-1.008	Destabilizing	0.008	N	0.225	neutral	None	None	None	None	N
Q/H	0.2707	likely_benign	0.2915	benign	-0.979	Destabilizing	0.196	N	0.285	neutral	N	0.446164839	None	None	N
Q/I	0.5003	ambiguous	0.5284	ambiguous	0.313	Stabilizing	0.085	N	0.513	neutral	None	None	None	None	N
Q/K	0.1285	likely_benign	0.1473	benign	-0.504	Destabilizing	0.003	N	0.138	neutral	N	0.391522277	None	None	N
Q/L	0.2055	likely_benign	0.2172	benign	0.313	Stabilizing	0.014	N	0.303	neutral	N	0.446511555	None	None	N
Q/M	0.3985	ambiguous	0.402	ambiguous	0.8	Stabilizing	0.497	N	0.255	neutral	None	None	None	None	N
Q/N	0.2602	likely_benign	0.2804	benign	-1.08	Destabilizing	0.018	N	0.182	neutral	None	None	None	None	N
Q/P	0.2106	likely_benign	0.2993	benign	0.028	Stabilizing	0.028	N	0.318	neutral	N	0.403296709	None	None	N
Q/R	0.1667	likely_benign	0.1874	benign	-0.46	Destabilizing	0.007	N	0.216	neutral	N	0.419074238	None	None	N
Q/S	0.1829	likely_benign	0.1844	benign	-1.134	Destabilizing	0.004	N	0.123	neutral	None	None	None	None	N
Q/T	0.2012	likely_benign	0.2163	benign	-0.839	Destabilizing	0.018	N	0.284	neutral	None	None	None	None	N
Q/V	0.2868	likely_benign	0.309	benign	0.028	Stabilizing	0.018	N	0.299	neutral	None	None	None	None	N
Q/W	0.6536	likely_pathogenic	0.7154	pathogenic	-0.273	Destabilizing	0.788	D	0.329	neutral	None	None	None	None	N
Q/Y	0.5142	ambiguous	0.5282	ambiguous	-0.021	Destabilizing	0.22	N	0.431	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.