TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23821	71686;71687;71688	chr2:178574671;178574670;178574669	chr2:179439398;179439397;179439396
N2AB	22180	66763;66764;66765	chr2:178574671;178574670;178574669	chr2:179439398;179439397;179439396
N2A	21253	63982;63983;63984	chr2:178574671;178574670;178574669	chr2:179439398;179439397;179439396
N2B	14756	44491;44492;44493	chr2:178574671;178574670;178574669	chr2:179439398;179439397;179439396
Novex-1	14881	44866;44867;44868	chr2:178574671;178574670;178574669	chr2:179439398;179439397;179439396
Novex-2	14948	45067;45068;45069	chr2:178574671;178574670;178574669	chr2:179439398;179439397;179439396
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: N
• RefSeq wild type transcript codon: AAC
• RefSeq wild type template codon: TTG
• Domain: Fn3-60
• Domain position: 96
• Structural Position: 131
• Q(SASA): 0.2919
• 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
N/T	None	None	None	N	0.047	0.07	0.0954503805726	gnomAD-4.0.0	1.59253E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.86012E-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
N/A	0.1187	likely_benign	0.1091	benign	-0.917	Destabilizing	None	N	0.109	neutral	None	None	None	None	N
N/C	0.1514	likely_benign	0.1495	benign	0.022	Stabilizing	0.492	N	0.507	neutral	None	None	None	None	N
N/D	0.1183	likely_benign	0.1242	benign	-0.345	Destabilizing	0.006	N	0.27	neutral	N	0.445383766	None	None	N
N/E	0.2357	likely_benign	0.2417	benign	-0.322	Destabilizing	0.007	N	0.185	neutral	None	None	None	None	N
N/F	0.5262	ambiguous	0.4727	ambiguous	-1.04	Destabilizing	0.204	N	0.63	neutral	None	None	None	None	N
N/G	0.2051	likely_benign	0.1948	benign	-1.165	Destabilizing	0.007	N	0.191	neutral	None	None	None	None	N
N/H	0.0912	likely_benign	0.0883	benign	-1.098	Destabilizing	0.162	N	0.387	neutral	N	0.434340053	None	None	N
N/I	0.2095	likely_benign	0.186	benign	-0.321	Destabilizing	0.026	N	0.621	neutral	N	0.4104044	None	None	N
N/K	0.2017	likely_benign	0.1969	benign	-0.16	Destabilizing	0.006	N	0.198	neutral	N	0.339408307	None	None	N
N/L	0.2025	likely_benign	0.1869	benign	-0.321	Destabilizing	0.007	N	0.449	neutral	None	None	None	None	N
N/M	0.2615	likely_benign	0.241	benign	0.308	Stabilizing	0.204	N	0.545	neutral	None	None	None	None	N
N/P	0.9005	likely_pathogenic	0.8886	pathogenic	-0.492	Destabilizing	0.035	N	0.54	neutral	None	None	None	None	N
N/Q	0.1802	likely_benign	0.1802	benign	-0.826	Destabilizing	None	N	0.173	neutral	None	None	None	None	N
N/R	0.2068	likely_benign	0.2039	benign	-0.091	Destabilizing	0.018	N	0.211	neutral	None	None	None	None	N
N/S	0.06	likely_benign	0.0594	benign	-0.659	Destabilizing	None	N	0.039	neutral	N	0.395859022	None	None	N
N/T	0.0911	likely_benign	0.0874	benign	-0.462	Destabilizing	None	N	0.047	neutral	N	0.381214857	None	None	N
N/V	0.1577	likely_benign	0.1491	benign	-0.492	Destabilizing	0.018	N	0.474	neutral	None	None	None	None	N
N/W	0.7538	likely_pathogenic	0.7272	pathogenic	-0.818	Destabilizing	0.747	D	0.579	neutral	None	None	None	None	N
N/Y	0.1652	likely_benign	0.1505	benign	-0.62	Destabilizing	0.162	N	0.634	neutral	N	0.433993336	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.