TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4944	15055;15056;15057	chr2:178735616;178735615;178735614	chr2:179600343;179600342;179600341
N2AB	4627	14104;14105;14106	chr2:178735616;178735615;178735614	chr2:179600343;179600342;179600341
N2A	3700	11323;11324;11325	chr2:178735616;178735615;178735614	chr2:179600343;179600342;179600341
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-32
• Domain position: 57
• Structural Position: 137
• Q(SASA): 0.1385
• 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
T/A	rs1479138931	None	0.001	D	0.297	0.123	0.202949470691	gnomAD-4.0.0	1.02647E-05	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.34926E-05	0	0
T/I	None	None	None	D	0.342	0.16	0.250579442822	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	6.33473E-05	0	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
T/A	0.0622	likely_benign	0.062	benign	-0.87	Destabilizing	0.001	N	0.297	neutral	D	0.547977668	None	None	N
T/C	0.164	likely_benign	0.1766	benign	-0.628	Destabilizing	None	N	0.398	neutral	None	None	None	None	N
T/D	0.2495	likely_benign	0.2824	benign	-1.753	Destabilizing	0.009	N	0.587	neutral	None	None	None	None	N
T/E	0.2081	likely_benign	0.2334	benign	-1.555	Destabilizing	0.009	N	0.575	neutral	None	None	None	None	N
T/F	0.0901	likely_benign	0.0964	benign	-0.388	Destabilizing	None	N	0.468	neutral	None	None	None	None	N
T/G	0.1339	likely_benign	0.1462	benign	-1.294	Destabilizing	0.004	N	0.563	neutral	None	None	None	None	N
T/H	0.1269	likely_benign	0.1346	benign	-1.594	Destabilizing	0.245	N	0.624	neutral	None	None	None	None	N
T/I	0.0841	likely_benign	0.0919	benign	0.244	Stabilizing	None	N	0.342	neutral	D	0.5537281	None	None	N
T/K	0.1402	likely_benign	0.1477	benign	-0.758	Destabilizing	0.007	N	0.574	neutral	N	0.509733856	None	None	N
T/L	0.0671	likely_benign	0.0707	benign	0.244	Stabilizing	0.001	N	0.427	neutral	None	None	None	None	N
T/M	0.0757	likely_benign	0.0788	benign	0.254	Stabilizing	0.138	N	0.649	neutral	None	None	None	None	N
T/N	0.085	likely_benign	0.0906	benign	-1.474	Destabilizing	0.009	N	0.489	neutral	None	None	None	None	N
T/P	0.4341	ambiguous	0.4744	ambiguous	-0.096	Destabilizing	0.033	N	0.634	neutral	D	0.736981276	None	None	N
T/Q	0.1505	likely_benign	0.1608	benign	-1.14	Destabilizing	0.044	N	0.639	neutral	None	None	None	None	N
T/R	0.1011	likely_benign	0.1053	benign	-1.075	Destabilizing	0.033	N	0.642	neutral	N	0.510527887	None	None	N
T/S	0.0649	likely_benign	0.0668	benign	-1.557	Destabilizing	None	N	0.148	neutral	N	0.511878888	None	None	N
T/V	0.0813	likely_benign	0.0865	benign	-0.096	Destabilizing	None	N	0.161	neutral	None	None	None	None	N
T/W	0.2539	likely_benign	0.2792	benign	-0.755	Destabilizing	0.497	N	0.629	neutral	None	None	None	None	N
T/Y	0.1012	likely_benign	0.1064	benign	-0.353	Destabilizing	0.022	N	0.639	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.