TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5271	16036;16037;16038	chr2:178733482;178733481;178733480	chr2:179598209;179598208;179598207
N2AB	4954	15085;15086;15087	chr2:178733482;178733481;178733480	chr2:179598209;179598208;179598207
N2A	4027	12304;12305;12306	chr2:178733482;178733481;178733480	chr2:179598209;179598208;179598207
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: Q
• RefSeq wild type transcript codon: CAG
• RefSeq wild type template codon: GTC
• Domain: Ig-36
• Domain position: 11
• Structural Position: 14
• Q(SASA): 0.2122
• 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/R	rs1578198392	None	0.642	N	0.346	0.222	0.223146558224	gnomAD-4.0.0	1.20036E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	1.31255E-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	0.2303	likely_benign	0.2624	benign	-0.268	Destabilizing	0.329	N	0.395	neutral	None	None	None	None	N
Q/C	0.7548	likely_pathogenic	0.7825	pathogenic	0.034	Stabilizing	0.995	D	0.484	neutral	None	None	None	None	N
Q/D	0.3686	ambiguous	0.3928	ambiguous	0.238	Stabilizing	0.329	N	0.332	neutral	None	None	None	None	N
Q/E	0.0683	likely_benign	0.0733	benign	0.253	Stabilizing	0.002	N	0.095	neutral	N	0.477171313	None	None	N
Q/F	0.7802	likely_pathogenic	0.7937	pathogenic	-0.311	Destabilizing	0.981	D	0.509	neutral	None	None	None	None	N
Q/G	0.3701	ambiguous	0.3986	ambiguous	-0.5	Destabilizing	0.495	N	0.381	neutral	None	None	None	None	N
Q/H	0.2092	likely_benign	0.2372	benign	-0.211	Destabilizing	0.927	D	0.401	neutral	N	0.511490213	None	None	N
Q/I	0.484	ambiguous	0.5104	ambiguous	0.268	Stabilizing	0.944	D	0.509	neutral	None	None	None	None	N
Q/K	0.1116	likely_benign	0.1148	benign	0.068	Stabilizing	0.27	N	0.361	neutral	N	0.450520487	None	None	N
Q/L	0.1947	likely_benign	0.215	benign	0.268	Stabilizing	0.642	D	0.434	neutral	N	0.502100758	None	None	N
Q/M	0.4374	ambiguous	0.4572	ambiguous	0.335	Stabilizing	0.981	D	0.411	neutral	None	None	None	None	N
Q/N	0.3019	likely_benign	0.3135	benign	-0.416	Destabilizing	0.031	N	0.095	neutral	None	None	None	None	N
Q/P	0.2407	likely_benign	0.2583	benign	0.119	Stabilizing	0.784	D	0.447	neutral	N	0.510955798	None	None	N
Q/R	0.1132	likely_benign	0.1186	benign	0.213	Stabilizing	0.642	D	0.346	neutral	N	0.473552143	None	None	N
Q/S	0.2413	likely_benign	0.264	benign	-0.445	Destabilizing	0.037	N	0.087	neutral	None	None	None	None	N
Q/T	0.1796	likely_benign	0.197	benign	-0.255	Destabilizing	0.329	N	0.384	neutral	None	None	None	None	N
Q/V	0.2969	likely_benign	0.3214	benign	0.119	Stabilizing	0.828	D	0.447	neutral	None	None	None	None	N
Q/W	0.6335	likely_pathogenic	0.6591	pathogenic	-0.263	Destabilizing	0.995	D	0.488	neutral	None	None	None	None	N
Q/Y	0.542	ambiguous	0.5606	ambiguous	-0.01	Destabilizing	0.981	D	0.411	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.