TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	28773	86542;86543;86544	chr2:178559815;178559814;178559813	chr2:179424542;179424541;179424540
N2AB	27132	81619;81620;81621	chr2:178559815;178559814;178559813	chr2:179424542;179424541;179424540
N2A	26205	78838;78839;78840	chr2:178559815;178559814;178559813	chr2:179424542;179424541;179424540
N2B	19708	59347;59348;59349	chr2:178559815;178559814;178559813	chr2:179424542;179424541;179424540
Novex-1	19833	59722;59723;59724	chr2:178559815;178559814;178559813	chr2:179424542;179424541;179424540
Novex-2	19900	59923;59924;59925	chr2:178559815;178559814;178559813	chr2:179424542;179424541;179424540
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: T
• RefSeq wild type transcript codon: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-144
• Domain position: 19
• Structural Position: 29
• Q(SASA): 0.5193
• 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	None	None	0.63	N	0.457	0.225	0.20549828249	gnomAD-4.0.0	1.59991E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43658E-05	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	0.1117	likely_benign	0.1222	benign	-0.842	Destabilizing	0.63	D	0.457	neutral	N	0.48137092	None	None	N
T/C	0.3188	likely_benign	0.3886	ambiguous	-0.448	Destabilizing	0.999	D	0.641	neutral	None	None	None	None	N
T/D	0.601	likely_pathogenic	0.663	pathogenic	0.345	Stabilizing	0.975	D	0.628	neutral	None	None	None	None	N
T/E	0.3954	ambiguous	0.4543	ambiguous	0.327	Stabilizing	0.975	D	0.617	neutral	None	None	None	None	N
T/F	0.3313	likely_benign	0.3833	ambiguous	-1.146	Destabilizing	0.975	D	0.705	prob.neutral	None	None	None	None	N
T/G	0.3701	ambiguous	0.4081	ambiguous	-1.051	Destabilizing	0.916	D	0.576	neutral	None	None	None	None	N
T/H	0.2235	likely_benign	0.2623	benign	-1.304	Destabilizing	0.999	D	0.68	prob.neutral	None	None	None	None	N
T/I	0.1977	likely_benign	0.2268	benign	-0.388	Destabilizing	0.805	D	0.547	neutral	N	0.497980526	None	None	N
T/K	0.2204	likely_benign	0.2704	benign	-0.429	Destabilizing	0.975	D	0.617	neutral	None	None	None	None	N
T/L	0.1468	likely_benign	0.1635	benign	-0.388	Destabilizing	0.845	D	0.503	neutral	None	None	None	None	N
T/M	0.1111	likely_benign	0.1183	benign	-0.132	Destabilizing	0.997	D	0.645	neutral	None	None	None	None	N
T/N	0.1802	likely_benign	0.1999	benign	-0.328	Destabilizing	0.967	D	0.549	neutral	N	0.466793614	None	None	N
T/P	0.6511	likely_pathogenic	0.6397	pathogenic	-0.509	Destabilizing	0.983	D	0.663	neutral	N	0.482384879	None	None	N
T/Q	0.203	likely_benign	0.2337	benign	-0.474	Destabilizing	0.987	D	0.661	neutral	None	None	None	None	N
T/R	0.1571	likely_benign	0.1951	benign	-0.242	Destabilizing	0.987	D	0.659	neutral	None	None	None	None	N
T/S	0.1181	likely_benign	0.1296	benign	-0.677	Destabilizing	0.243	N	0.403	neutral	N	0.493478783	None	None	N
T/V	0.1493	likely_benign	0.1646	benign	-0.509	Destabilizing	0.033	N	0.391	neutral	None	None	None	None	N
T/W	0.6651	likely_pathogenic	0.7197	pathogenic	-1.059	Destabilizing	0.999	D	0.667	neutral	None	None	None	None	N
T/Y	0.3391	likely_benign	0.3845	ambiguous	-0.807	Destabilizing	0.987	D	0.707	prob.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.