TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	29097	87514;87515;87516	chr2:178558065;178558064;178558063	chr2:179422792;179422791;179422790
N2AB	27456	82591;82592;82593	chr2:178558065;178558064;178558063	chr2:179422792;179422791;179422790
N2A	26529	79810;79811;79812	chr2:178558065;178558064;178558063	chr2:179422792;179422791;179422790
N2B	20032	60319;60320;60321	chr2:178558065;178558064;178558063	chr2:179422792;179422791;179422790
Novex-1	20157	60694;60695;60696	chr2:178558065;178558064;178558063	chr2:179422792;179422791;179422790
Novex-2	20224	60895;60896;60897	chr2:178558065;178558064;178558063	chr2:179422792;179422791;179422790
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: A
• RefSeq wild type transcript codon: GCT
• RefSeq wild type template codon: CGA
• Domain: Ig-145
• Domain position: 53
• Structural Position: 131
• Q(SASA): 0.451
• 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
A/V	None	None	0.961	N	0.279	0.316	0.324436698001	gnomAD-4.0.0	2.40064E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.625E-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
A/C	0.4535	ambiguous	0.3993	ambiguous	-0.726	Destabilizing	1.0	D	0.297	neutral	None	None	None	None	N
A/D	0.2646	likely_benign	0.2053	benign	-0.604	Destabilizing	0.994	D	0.407	neutral	N	0.40889453	None	None	N
A/E	0.2217	likely_benign	0.1728	benign	-0.752	Destabilizing	0.985	D	0.316	neutral	None	None	None	None	N
A/F	0.3915	ambiguous	0.3457	ambiguous	-0.876	Destabilizing	0.999	D	0.468	neutral	None	None	None	None	N
A/G	0.1167	likely_benign	0.1109	benign	-0.353	Destabilizing	0.98	D	0.283	neutral	N	0.39830939	None	None	N
A/H	0.407	ambiguous	0.3441	ambiguous	-0.433	Destabilizing	1.0	D	0.486	neutral	None	None	None	None	N
A/I	0.2246	likely_benign	0.2024	benign	-0.31	Destabilizing	0.991	D	0.313	neutral	None	None	None	None	N
A/K	0.3274	likely_benign	0.2524	benign	-0.746	Destabilizing	0.97	D	0.324	neutral	None	None	None	None	N
A/L	0.1481	likely_benign	0.1367	benign	-0.31	Destabilizing	0.97	D	0.312	neutral	None	None	None	None	N
A/M	0.1726	likely_benign	0.1593	benign	-0.398	Destabilizing	1.0	D	0.341	neutral	None	None	None	None	N
A/N	0.1881	likely_benign	0.1739	benign	-0.371	Destabilizing	0.996	D	0.448	neutral	None	None	None	None	N
A/P	0.1032	likely_benign	0.0968	benign	-0.268	Destabilizing	0.031	N	0.257	neutral	N	0.384230945	None	None	N
A/Q	0.2602	likely_benign	0.2199	benign	-0.646	Destabilizing	0.999	D	0.317	neutral	None	None	None	None	N
A/R	0.3398	likely_benign	0.2567	benign	-0.274	Destabilizing	0.996	D	0.319	neutral	None	None	None	None	N
A/S	0.0807	likely_benign	0.0795	benign	-0.548	Destabilizing	0.925	D	0.339	neutral	N	0.386961819	None	None	N
A/T	0.0764	likely_benign	0.075	benign	-0.618	Destabilizing	0.248	N	0.224	neutral	N	0.429829949	None	None	N
A/V	0.1172	likely_benign	0.1085	benign	-0.268	Destabilizing	0.961	D	0.279	neutral	N	0.449282502	None	None	N
A/W	0.6855	likely_pathogenic	0.6133	pathogenic	-1.04	Destabilizing	1.0	D	0.624	neutral	None	None	None	None	N
A/Y	0.4698	ambiguous	0.4041	ambiguous	-0.691	Destabilizing	0.999	D	0.462	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.