TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	20527	61804;61805;61806	chr2:178590146;178590145;178590144	chr2:179454873;179454872;179454871
N2AB	18886	56881;56882;56883	chr2:178590146;178590145;178590144	chr2:179454873;179454872;179454871
N2A	17959	54100;54101;54102	chr2:178590146;178590145;178590144	chr2:179454873;179454872;179454871
N2B	11462	34609;34610;34611	chr2:178590146;178590145;178590144	chr2:179454873;179454872;179454871
Novex-1	11587	34984;34985;34986	chr2:178590146;178590145;178590144	chr2:179454873;179454872;179454871
Novex-2	11654	35185;35186;35187	chr2:178590146;178590145;178590144	chr2:179454873;179454872;179454871
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-121
• Domain position: 49
• Structural Position: 127
• Q(SASA): 0.5802
• 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	rs2049896999	None	None	N	0.239	0.141	0.248417906384	gnomAD-4.0.0	1.59256E-06	None	None	None	None	N	None	0	0	None	0	2.77809E-05	None	0	0	0	0	0
Q/R	None	None	None	N	0.242	0.121	0.180583059064	gnomAD-4.0.0	3.18499E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	2.86812E-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	0.1508	likely_benign	0.1453	benign	-0.239	Destabilizing	0.016	N	0.429	neutral	None	None	None	None	N
Q/C	0.3335	likely_benign	0.3421	ambiguous	0.081	Stabilizing	0.864	D	0.547	neutral	None	None	None	None	N
Q/D	0.2281	likely_benign	0.2354	benign	0.094	Stabilizing	0.016	N	0.351	neutral	None	None	None	None	N
Q/E	0.0734	likely_benign	0.083	benign	0.137	Stabilizing	0.005	N	0.275	neutral	N	0.44336026	None	None	N
Q/F	0.4835	ambiguous	0.4508	ambiguous	-0.193	Destabilizing	0.214	N	0.581	neutral	None	None	None	None	N
Q/G	0.1769	likely_benign	0.1893	benign	-0.508	Destabilizing	0.031	N	0.545	neutral	None	None	None	None	N
Q/H	0.1023	likely_benign	0.0981	benign	-0.271	Destabilizing	None	N	0.233	neutral	N	0.46700791	None	None	N
Q/I	0.3049	likely_benign	0.2959	benign	0.406	Stabilizing	0.356	N	0.591	neutral	None	None	None	None	N
Q/K	0.0852	likely_benign	0.0846	benign	-0.001	Destabilizing	None	N	0.239	neutral	N	0.471642939	None	None	N
Q/L	0.1137	likely_benign	0.1127	benign	0.406	Stabilizing	0.024	N	0.559	neutral	N	0.48426552	None	None	N
Q/M	0.3125	likely_benign	0.2739	benign	0.438	Stabilizing	0.628	D	0.46	neutral	None	None	None	None	N
Q/N	0.1596	likely_benign	0.1455	benign	-0.438	Destabilizing	None	N	0.229	neutral	None	None	None	None	N
Q/P	0.1123	likely_benign	0.1084	benign	0.222	Stabilizing	0.106	N	0.537	neutral	N	0.449768944	None	None	N
Q/R	0.0798	likely_benign	0.0892	benign	0.082	Stabilizing	None	N	0.242	neutral	N	0.463620889	None	None	N
Q/S	0.1462	likely_benign	0.1259	benign	-0.471	Destabilizing	0.001	N	0.233	neutral	None	None	None	None	N
Q/T	0.1267	likely_benign	0.1137	benign	-0.248	Destabilizing	0.016	N	0.486	neutral	None	None	None	None	N
Q/V	0.1883	likely_benign	0.1847	benign	0.222	Stabilizing	0.072	N	0.564	neutral	None	None	None	None	N
Q/W	0.317	likely_benign	0.3699	ambiguous	-0.166	Destabilizing	0.864	D	0.548	neutral	None	None	None	None	N
Q/Y	0.2465	likely_benign	0.2495	benign	0.093	Stabilizing	0.038	N	0.528	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.