TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	33234	99925;99926;99927	chr2:178537507;178537506;178537505	chr2:179402234;179402233;179402232
N2AB	31593	95002;95003;95004	chr2:178537507;178537506;178537505	chr2:179402234;179402233;179402232
N2A	30666	92221;92222;92223	chr2:178537507;178537506;178537505	chr2:179402234;179402233;179402232
N2B	24169	72730;72731;72732	chr2:178537507;178537506;178537505	chr2:179402234;179402233;179402232
Novex-1	24294	73105;73106;73107	chr2:178537507;178537506;178537505	chr2:179402234;179402233;179402232
Novex-2	24361	73306;73307;73308	chr2:178537507;178537506;178537505	chr2:179402234;179402233;179402232
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-157
• Domain position: 32
• Structural Position: 52
• Q(SASA): 0.3118
• 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/R	None	None	0.017	N	0.231	0.171	0.110078149338	gnomAD-4.0.0	1.20032E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.3125E-06	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	0.1796	likely_benign	0.2002	benign	-0.096	Destabilizing	0.08	N	0.253	neutral	None	None	None	None	I
Q/C	0.6304	likely_pathogenic	0.7076	pathogenic	-0.181	Destabilizing	0.912	D	0.279	neutral	None	None	None	None	I
Q/D	0.178	likely_benign	0.1824	benign	0.038	Stabilizing	0.025	N	0.245	neutral	None	None	None	None	I
Q/E	0.0692	likely_benign	0.0697	benign	-0.002	Destabilizing	0.012	N	0.181	neutral	N	0.353118605	None	None	I
Q/F	0.722	likely_pathogenic	0.7735	pathogenic	-0.515	Destabilizing	0.835	D	0.297	neutral	None	None	None	None	I
Q/G	0.1544	likely_benign	0.1738	benign	-0.201	Destabilizing	0.08	N	0.235	neutral	None	None	None	None	I
Q/H	0.1822	likely_benign	0.1993	benign	0.074	Stabilizing	0.473	N	0.251	neutral	N	0.408993317	None	None	I
Q/I	0.4466	ambiguous	0.4831	ambiguous	0.084	Stabilizing	0.543	D	0.353	neutral	None	None	None	None	I
Q/K	0.0599	likely_benign	0.0677	benign	0.064	Stabilizing	None	N	0.079	neutral	N	0.359564574	None	None	I
Q/L	0.1776	likely_benign	0.1955	benign	0.084	Stabilizing	0.05	N	0.241	neutral	N	0.427752436	None	None	I
Q/M	0.3694	ambiguous	0.4026	ambiguous	-0.016	Destabilizing	0.784	D	0.257	neutral	None	None	None	None	I
Q/N	0.1432	likely_benign	0.1522	benign	-0.319	Destabilizing	None	N	0.131	neutral	None	None	None	None	I
Q/P	0.1251	likely_benign	0.1327	benign	0.048	Stabilizing	0.162	N	0.355	neutral	N	0.427405719	None	None	I
Q/R	0.0961	likely_benign	0.1048	benign	0.257	Stabilizing	0.017	N	0.231	neutral	N	0.397429529	None	None	I
Q/S	0.1482	likely_benign	0.1621	benign	-0.292	Destabilizing	0.037	N	0.185	neutral	None	None	None	None	I
Q/T	0.1632	likely_benign	0.1764	benign	-0.201	Destabilizing	0.007	N	0.28	neutral	None	None	None	None	I
Q/V	0.3174	likely_benign	0.3413	ambiguous	0.048	Stabilizing	0.048	N	0.303	neutral	None	None	None	None	I
Q/W	0.5601	ambiguous	0.6161	pathogenic	-0.596	Destabilizing	0.981	D	0.296	neutral	None	None	None	None	I
Q/Y	0.486	ambiguous	0.5321	ambiguous	-0.289	Destabilizing	0.835	D	0.34	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.