TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	23095	69508;69509;69510	chr2:178577052;178577051;178577050	chr2:179441779;179441778;179441777
N2AB	21454	64585;64586;64587	chr2:178577052;178577051;178577050	chr2:179441779;179441778;179441777
N2A	20527	61804;61805;61806	chr2:178577052;178577051;178577050	chr2:179441779;179441778;179441777
N2B	14030	42313;42314;42315	chr2:178577052;178577051;178577050	chr2:179441779;179441778;179441777
Novex-1	14155	42688;42689;42690	chr2:178577052;178577051;178577050	chr2:179441779;179441778;179441777
Novex-2	14222	42889;42890;42891	chr2:178577052;178577051;178577050	chr2:179441779;179441778;179441777
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: Fn3-55
• Domain position: 56
• Structural Position: 83
• Q(SASA): 0.8146
• 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/H	None	None	0.693	N	0.261	0.117	0.156986980423	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	1.01626E-03	None	0	0	None	0	0	0	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	0.1147	likely_benign	0.1087	benign	-0.151	Destabilizing	0.016	N	0.18	neutral	None	None	None	None	I
Q/C	0.4018	ambiguous	0.4045	ambiguous	0.08	Stabilizing	0.749	D	0.266	neutral	None	None	None	None	I
Q/D	0.2301	likely_benign	0.2207	benign	0.074	Stabilizing	0.08	N	0.163	neutral	None	None	None	None	I
Q/E	0.0747	likely_benign	0.0753	benign	0.028	Stabilizing	None	N	0.086	neutral	N	0.427667583	None	None	I
Q/F	0.4608	ambiguous	0.4401	ambiguous	-0.493	Destabilizing	0.296	N	0.386	neutral	None	None	None	None	I
Q/G	0.1667	likely_benign	0.1535	benign	-0.285	Destabilizing	0.148	N	0.198	neutral	None	None	None	None	I
Q/H	0.1266	likely_benign	0.1231	benign	-0.162	Destabilizing	0.693	D	0.261	neutral	N	0.462569591	None	None	I
Q/I	0.213	likely_benign	0.2071	benign	0.103	Stabilizing	0.029	N	0.237	neutral	None	None	None	None	I
Q/K	0.0754	likely_benign	0.0721	benign	0.121	Stabilizing	None	N	0.099	neutral	N	0.404926797	None	None	I
Q/L	0.0846	likely_benign	0.0827	benign	0.103	Stabilizing	0.012	N	0.196	neutral	N	0.509592747	None	None	I
Q/M	0.23	likely_benign	0.2263	benign	0.268	Stabilizing	0.007	N	0.102	neutral	None	None	None	None	I
Q/N	0.1811	likely_benign	0.1705	benign	-0.208	Destabilizing	0.148	N	0.205	neutral	None	None	None	None	I
Q/P	0.0684	likely_benign	0.0648	benign	0.044	Stabilizing	None	N	0.112	neutral	N	0.418336024	None	None	I
Q/R	0.0886	likely_benign	0.0861	benign	0.26	Stabilizing	0.061	N	0.219	neutral	N	0.424589993	None	None	I
Q/S	0.1236	likely_benign	0.1194	benign	-0.191	Destabilizing	0.07	N	0.148	neutral	None	None	None	None	I
Q/T	0.0996	likely_benign	0.095	benign	-0.095	Destabilizing	0.148	N	0.211	neutral	None	None	None	None	I
Q/V	0.1282	likely_benign	0.1276	benign	0.044	Stabilizing	None	N	0.105	neutral	None	None	None	None	I
Q/W	0.4303	ambiguous	0.4101	ambiguous	-0.52	Destabilizing	0.972	D	0.265	neutral	None	None	None	None	I
Q/Y	0.3124	likely_benign	0.3037	benign	-0.238	Destabilizing	0.46	N	0.351	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.