TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	21816	65671;65672;65673	chr2:178583736;178583735;178583734	chr2:179448463;179448462;179448461
N2AB	20175	60748;60749;60750	chr2:178583736;178583735;178583734	chr2:179448463;179448462;179448461
N2A	19248	57967;57968;57969	chr2:178583736;178583735;178583734	chr2:179448463;179448462;179448461
N2B	12751	38476;38477;38478	chr2:178583736;178583735;178583734	chr2:179448463;179448462;179448461
Novex-1	12876	38851;38852;38853	chr2:178583736;178583735;178583734	chr2:179448463;179448462;179448461
Novex-2	12943	39052;39053;39054	chr2:178583736;178583735;178583734	chr2:179448463;179448462;179448461
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: Fn3-46
• Domain position: 60
• Structural Position: 88
• Q(SASA): 0.7059
• 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/L	None	None	0.001	N	0.223	0.202	0.420447328233	gnomAD-4.0.0	6.84874E-07	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99954E-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	0.1295	likely_benign	0.1355	benign	-0.181	Destabilizing	0.003	N	0.143	neutral	None	None	None	None	N
Q/C	0.4686	ambiguous	0.447	ambiguous	-0.038	Destabilizing	0.968	D	0.435	neutral	None	None	None	None	N
Q/D	0.2734	likely_benign	0.2514	benign	-0.034	Destabilizing	0.365	N	0.28	neutral	None	None	None	None	N
Q/E	0.0741	likely_benign	0.0736	benign	-0.033	Destabilizing	0.159	N	0.143	neutral	N	0.427587439	None	None	N
Q/F	0.5417	ambiguous	0.5057	ambiguous	-0.321	Destabilizing	0.582	D	0.559	neutral	None	None	None	None	N
Q/G	0.1739	likely_benign	0.1735	benign	-0.388	Destabilizing	0.365	N	0.259	neutral	None	None	None	None	N
Q/H	0.1648	likely_benign	0.1533	benign	-0.126	Destabilizing	0.958	D	0.368	neutral	N	0.487985323	None	None	N
Q/I	0.2937	likely_benign	0.2805	benign	0.282	Stabilizing	0.223	N	0.411	neutral	None	None	None	None	N
Q/K	0.0686	likely_benign	0.0651	benign	-0.053	Destabilizing	0.002	N	0.078	neutral	N	0.415834437	None	None	N
Q/L	0.0959	likely_benign	0.104	benign	0.282	Stabilizing	0.001	N	0.223	neutral	N	0.4798272	None	None	N
Q/M	0.2666	likely_benign	0.2609	benign	0.211	Stabilizing	0.83	D	0.386	neutral	None	None	None	None	N
Q/N	0.2116	likely_benign	0.192	benign	-0.438	Destabilizing	0.365	N	0.282	neutral	None	None	None	None	N
Q/P	0.2131	likely_benign	0.2402	benign	0.156	Stabilizing	0.68	D	0.433	neutral	N	0.506397726	None	None	N
Q/R	0.0775	likely_benign	0.0758	benign	0.135	Stabilizing	0.001	N	0.117	neutral	N	0.458009133	None	None	N
Q/S	0.1759	likely_benign	0.1695	benign	-0.414	Destabilizing	0.111	N	0.145	neutral	None	None	None	None	N
Q/T	0.1373	likely_benign	0.1314	benign	-0.258	Destabilizing	0.003	N	0.153	neutral	None	None	None	None	N
Q/V	0.1657	likely_benign	0.1658	benign	0.156	Stabilizing	0.111	N	0.24	neutral	None	None	None	None	N
Q/W	0.427	ambiguous	0.4125	ambiguous	-0.342	Destabilizing	0.991	D	0.436	neutral	None	None	None	None	N
Q/Y	0.384	ambiguous	0.3572	ambiguous	-0.072	Destabilizing	0.738	D	0.519	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.