TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	5576	16951;16952;16953	chr2:178732243;178732242;178732241	chr2:179596970;179596969;179596968
N2AB	5259	16000;16001;16002	chr2:178732243;178732242;178732241	chr2:179596970;179596969;179596968
N2A	4332	13219;13220;13221	chr2:178732243;178732242;178732241	chr2:179596970;179596969;179596968
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: T
• RefSeq wild type transcript codon: ACA
• RefSeq wild type template codon: TGT
• Domain: Ig-39
• Domain position: 34
• Structural Position: 47
• Q(SASA): 0.2519
• 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	rs769401892	-0.932	0.454	N	0.484	0.251	0.33085137897	gnomAD-2.1.1	4.02E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	None	0	8.9E-06	0
T/R	None	None	0.012	N	0.373	0.309	0.536851905119	gnomAD-4.0.0	1.59124E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	2.85822E-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
T/A	0.0772	likely_benign	0.0819	benign	-0.991	Destabilizing	0.454	N	0.484	neutral	N	0.489264409	None	None	N
T/C	0.2932	likely_benign	0.3231	benign	-0.5	Destabilizing	0.998	D	0.549	neutral	None	None	None	None	N
T/D	0.3702	ambiguous	0.3888	ambiguous	-0.921	Destabilizing	0.842	D	0.533	neutral	None	None	None	None	N
T/E	0.2815	likely_benign	0.2883	benign	-0.789	Destabilizing	0.842	D	0.523	neutral	None	None	None	None	N
T/F	0.1592	likely_benign	0.1764	benign	-0.571	Destabilizing	0.991	D	0.618	neutral	None	None	None	None	N
T/G	0.236	likely_benign	0.2605	benign	-1.375	Destabilizing	0.728	D	0.548	neutral	None	None	None	None	N
T/H	0.1676	likely_benign	0.1689	benign	-1.477	Destabilizing	0.991	D	0.608	neutral	None	None	None	None	N
T/I	0.0956	likely_benign	0.1014	benign	-0.003	Destabilizing	0.966	D	0.554	neutral	D	0.528096442	None	None	N
T/K	0.1254	likely_benign	0.1221	benign	-0.789	Destabilizing	0.022	N	0.277	neutral	N	0.501677844	None	None	N
T/L	0.0747	likely_benign	0.0799	benign	-0.003	Destabilizing	0.842	D	0.523	neutral	None	None	None	None	N
T/M	0.0811	likely_benign	0.0845	benign	0.111	Stabilizing	0.991	D	0.56	neutral	None	None	None	None	N
T/N	0.1134	likely_benign	0.1139	benign	-1.112	Destabilizing	0.842	D	0.525	neutral	None	None	None	None	N
T/P	0.4934	ambiguous	0.5221	ambiguous	-0.301	Destabilizing	0.966	D	0.552	neutral	D	0.53778073	None	None	N
T/Q	0.1646	likely_benign	0.1659	benign	-0.988	Destabilizing	0.842	D	0.547	neutral	None	None	None	None	N
T/R	0.0926	likely_benign	0.0913	benign	-0.803	Destabilizing	0.012	N	0.373	neutral	N	0.496080024	None	None	N
T/S	0.0929	likely_benign	0.098	benign	-1.36	Destabilizing	0.051	N	0.237	neutral	N	0.469909356	None	None	N
T/V	0.0939	likely_benign	0.1022	benign	-0.301	Destabilizing	0.842	D	0.537	neutral	None	None	None	None	N
T/W	0.4271	ambiguous	0.4489	ambiguous	-0.687	Destabilizing	0.998	D	0.639	neutral	None	None	None	None	N
T/Y	0.1997	likely_benign	0.2106	benign	-0.397	Destabilizing	0.991	D	0.618	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.