TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15521	46786;46787;46788	chr2:178619756;178619755;178619754	chr2:179484483;179484482;179484481
N2AB	13880	41863;41864;41865	chr2:178619756;178619755;178619754	chr2:179484483;179484482;179484481
N2A	12953	39082;39083;39084	chr2:178619756;178619755;178619754	chr2:179484483;179484482;179484481
N2B	6456	19591;19592;19593	chr2:178619756;178619755;178619754	chr2:179484483;179484482;179484481
Novex-1	6581	19966;19967;19968	chr2:178619756;178619755;178619754	chr2:179484483;179484482;179484481
Novex-2	6648	20167;20168;20169	chr2:178619756;178619755;178619754	chr2:179484483;179484482;179484481
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-107
• Domain position: 42
• Structural Position: 70
• Q(SASA): 0.569
• 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	rs758692633	0.353	0.997	N	0.457	0.412	0.367042808489	gnomAD-2.1.1	1.07E-05	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	2.35E-05	0
Q/K	rs758692633	0.353	0.997	N	0.457	0.412	0.367042808489	gnomAD-3.1.2	1.32E-05	None	None	None	None	N	None	0	0	0	0	0	None	0	0	2.95E-05	0	0
Q/K	rs758692633	0.353	0.997	N	0.457	0.412	0.367042808489	gnomAD-4.0.0	1.31837E-05	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.94742E-05	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	0.2548	likely_benign	0.2353	benign	-0.263	Destabilizing	0.997	D	0.467	neutral	None	None	None	None	N
Q/C	0.8626	likely_pathogenic	0.8821	pathogenic	0.235	Stabilizing	1.0	D	0.584	neutral	None	None	None	None	N
Q/D	0.6467	likely_pathogenic	0.6385	pathogenic	-0.035	Destabilizing	0.997	D	0.485	neutral	None	None	None	None	N
Q/E	0.1337	likely_benign	0.1235	benign	-0.053	Destabilizing	0.992	D	0.376	neutral	N	0.462633742	None	None	N
Q/F	0.9026	likely_pathogenic	0.9	pathogenic	-0.399	Destabilizing	0.999	D	0.597	neutral	None	None	None	None	N
Q/G	0.4664	ambiguous	0.4587	ambiguous	-0.475	Destabilizing	0.997	D	0.459	neutral	None	None	None	None	N
Q/H	0.5155	ambiguous	0.4953	ambiguous	-0.366	Destabilizing	0.999	D	0.534	neutral	N	0.487418292	None	None	N
Q/I	0.6986	likely_pathogenic	0.6813	pathogenic	0.213	Stabilizing	0.999	D	0.603	neutral	None	None	None	None	N
Q/K	0.1978	likely_benign	0.1858	benign	-0.019	Destabilizing	0.997	D	0.457	neutral	N	0.498819225	None	None	N
Q/L	0.334	likely_benign	0.295	benign	0.213	Stabilizing	0.997	D	0.459	neutral	N	0.502088615	None	None	N
Q/M	0.5177	ambiguous	0.5187	ambiguous	0.478	Stabilizing	0.999	D	0.534	neutral	None	None	None	None	N
Q/N	0.4823	ambiguous	0.4909	ambiguous	-0.287	Destabilizing	0.999	D	0.495	neutral	None	None	None	None	N
Q/P	0.1343	likely_benign	0.1153	benign	0.083	Stabilizing	0.999	D	0.553	neutral	N	0.426659895	None	None	N
Q/R	0.2274	likely_benign	0.2116	benign	0.141	Stabilizing	0.997	D	0.489	neutral	N	0.51080067	None	None	N
Q/S	0.3316	likely_benign	0.314	benign	-0.295	Destabilizing	0.997	D	0.45	neutral	None	None	None	None	N
Q/T	0.3544	ambiguous	0.3296	benign	-0.155	Destabilizing	0.999	D	0.527	neutral	None	None	None	None	N
Q/V	0.5192	ambiguous	0.496	ambiguous	0.083	Stabilizing	0.999	D	0.478	neutral	None	None	None	None	N
Q/W	0.8631	likely_pathogenic	0.8551	pathogenic	-0.376	Destabilizing	1.0	D	0.548	neutral	None	None	None	None	N
Q/Y	0.8217	likely_pathogenic	0.8141	pathogenic	-0.134	Destabilizing	0.999	D	0.553	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.