TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	30309	91150;91151;91152	chr2:178551975;178551974;178551973	chr2:179416702;179416701;179416700
N2AB	28668	86227;86228;86229	chr2:178551975;178551974;178551973	chr2:179416702;179416701;179416700
N2A	27741	83446;83447;83448	chr2:178551975;178551974;178551973	chr2:179416702;179416701;179416700
N2B	21244	63955;63956;63957	chr2:178551975;178551974;178551973	chr2:179416702;179416701;179416700
Novex-1	21369	64330;64331;64332	chr2:178551975;178551974;178551973	chr2:179416702;179416701;179416700
Novex-2	21436	64531;64532;64533	chr2:178551975;178551974;178551973	chr2:179416702;179416701;179416700
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: Fn3-108
• Domain position: 86
• Structural Position: 119
• Q(SASA): 0.4216
• 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	rs990620732	None	0.003	N	0.184	0.069	0.0551355673512	gnomAD-3.1.2	6.58E-06	None	None	None	None	N	None	2.41E-05	0	0	0	0	None	0	0	0	0	0
Q/K	rs990620732	None	0.003	N	0.184	0.069	0.0551355673512	gnomAD-4.0.0	6.57704E-06	None	None	None	None	N	None	2.41453E-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
Q/A	0.0917	likely_benign	0.0867	benign	-0.35	Destabilizing	0.004	N	0.241	neutral	None	None	None	None	N
Q/C	0.4372	ambiguous	0.5409	ambiguous	0.091	Stabilizing	0.788	D	0.434	neutral	None	None	None	None	N
Q/D	0.1471	likely_benign	0.1402	benign	-0.104	Destabilizing	None	N	0.045	neutral	None	None	None	None	N
Q/E	0.0545	likely_benign	0.0496	benign	-0.12	Destabilizing	None	N	0.033	neutral	N	0.332447836	None	None	N
Q/F	0.4139	ambiguous	0.5061	ambiguous	-0.451	Destabilizing	0.074	N	0.521	neutral	None	None	None	None	N
Q/G	0.1782	likely_benign	0.1814	benign	-0.564	Destabilizing	0.008	N	0.361	neutral	None	None	None	None	N
Q/H	0.1332	likely_benign	0.1579	benign	-0.407	Destabilizing	0.196	N	0.355	neutral	N	0.447312137	None	None	N
Q/I	0.1953	likely_benign	0.223	benign	0.132	Stabilizing	0.022	N	0.471	neutral	None	None	None	None	N
Q/K	0.0866	likely_benign	0.0918	benign	-0.111	Destabilizing	0.003	N	0.184	neutral	N	0.4055028	None	None	N
Q/L	0.0719	likely_benign	0.0797	benign	0.132	Stabilizing	None	N	0.105	neutral	N	0.40411872	None	None	N
Q/M	0.1892	likely_benign	0.2132	benign	0.384	Stabilizing	0.138	N	0.344	neutral	None	None	None	None	N
Q/N	0.1391	likely_benign	0.1553	benign	-0.445	Destabilizing	None	N	0.057	neutral	None	None	None	None	N
Q/P	0.0604	likely_benign	0.0566	benign	0.001	Stabilizing	None	N	0.089	neutral	N	0.348126577	None	None	N
Q/R	0.1205	likely_benign	0.1305	benign	0.081	Stabilizing	0.007	N	0.209	neutral	N	0.412314129	None	None	N
Q/S	0.1006	likely_benign	0.1009	benign	-0.442	Destabilizing	0.004	N	0.165	neutral	None	None	None	None	N
Q/T	0.1051	likely_benign	0.1099	benign	-0.298	Destabilizing	0.018	N	0.395	neutral	None	None	None	None	N
Q/V	0.1137	likely_benign	0.1161	benign	0.001	Stabilizing	0.009	N	0.371	neutral	None	None	None	None	N
Q/W	0.4222	ambiguous	0.5119	ambiguous	-0.397	Destabilizing	0.788	D	0.436	neutral	None	None	None	None	N
Q/Y	0.2754	likely_benign	0.3439	ambiguous	-0.172	Destabilizing	0.245	N	0.505	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.