TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4860	14803;14804;14805	chr2:178735868;178735867;178735866	chr2:179600595;179600594;179600593
N2AB	4543	13852;13853;13854	chr2:178735868;178735867;178735866	chr2:179600595;179600594;179600593
N2A	3616	11071;11072;11073	chr2:178735868;178735867;178735866	chr2:179600595;179600594;179600593
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-31
• Domain position: 66
• Structural Position: 148
• Q(SASA): 0.7646
• 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/K	None	None	0.006	N	0.166	0.123	0.117506650769	gnomAD-4.0.0	6.84193E-07	None	None	None	None	I	None	0	0	None	0	0	None	0	0	8.99439E-07	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	0.1592	likely_benign	0.1319	benign	-0.096	Destabilizing	None	N	0.075	neutral	None	None	None	None	I
Q/C	0.5978	likely_pathogenic	0.4399	ambiguous	0.102	Stabilizing	0.497	N	0.267	neutral	None	None	None	None	I
Q/D	0.2222	likely_benign	0.1696	benign	-0.051	Destabilizing	0.009	N	0.161	neutral	None	None	None	None	I
Q/E	0.0667	likely_benign	0.0625	benign	-0.104	Destabilizing	0.003	N	0.167	neutral	N	0.341047041	None	None	I
Q/F	0.6201	likely_pathogenic	0.5012	ambiguous	-0.47	Destabilizing	0.044	N	0.366	neutral	None	None	None	None	I
Q/G	0.1751	likely_benign	0.1387	benign	-0.221	Destabilizing	0.004	N	0.173	neutral	None	None	None	None	I
Q/H	0.1674	likely_benign	0.1255	benign	-0.075	Destabilizing	None	N	0.133	neutral	N	0.507018696	None	None	I
Q/I	0.3845	ambiguous	0.2987	benign	0.134	Stabilizing	0.044	N	0.371	neutral	None	None	None	None	I
Q/K	0.0861	likely_benign	0.0736	benign	0.086	Stabilizing	0.006	N	0.166	neutral	N	0.429288641	None	None	I
Q/L	0.1308	likely_benign	0.1123	benign	0.134	Stabilizing	0.014	N	0.198	neutral	N	0.478676647	None	None	I
Q/M	0.3629	ambiguous	0.3031	benign	0.242	Stabilizing	0.497	N	0.278	neutral	None	None	None	None	I
Q/N	0.2137	likely_benign	0.1599	benign	-0.14	Destabilizing	None	N	0.074	neutral	None	None	None	None	I
Q/P	0.1269	likely_benign	0.1006	benign	0.082	Stabilizing	0.065	N	0.291	neutral	N	0.514475866	None	None	I
Q/R	0.0907	likely_benign	0.0797	benign	0.265	Stabilizing	0.014	N	0.262	neutral	N	0.433104957	None	None	I
Q/S	0.1799	likely_benign	0.143	benign	-0.131	Destabilizing	None	N	0.068	neutral	None	None	None	None	I
Q/T	0.1654	likely_benign	0.1318	benign	-0.054	Destabilizing	None	N	0.089	neutral	None	None	None	None	I
Q/V	0.2724	likely_benign	0.2127	benign	0.082	Stabilizing	0.018	N	0.189	neutral	None	None	None	None	I
Q/W	0.3631	ambiguous	0.28	benign	-0.527	Destabilizing	0.788	D	0.253	neutral	None	None	None	None	I
Q/Y	0.383	ambiguous	0.2811	benign	-0.238	Destabilizing	0.022	N	0.342	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.