TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	15607	47044;47045;47046	chr2:178618731;178618730;178618729	chr2:179483458;179483457;179483456
N2AB	13966	42121;42122;42123	chr2:178618731;178618730;178618729	chr2:179483458;179483457;179483456
N2A	13039	39340;39341;39342	chr2:178618731;178618730;178618729	chr2:179483458;179483457;179483456
N2B	6542	19849;19850;19851	chr2:178618731;178618730;178618729	chr2:179483458;179483457;179483456
Novex-1	6667	20224;20225;20226	chr2:178618731;178618730;178618729	chr2:179483458;179483457;179483456
Novex-2	6734	20425;20426;20427	chr2:178618731;178618730;178618729	chr2:179483458;179483457;179483456
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: P
• RefSeq wild type transcript codon: CCT
• RefSeq wild type template codon: GGA
• Domain: Ig-108
• Domain position: 40
• Structural Position: 56
• Q(SASA): 0.4154
• 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
P/L	None	None	0.012	N	0.325	0.159	0.421799068777	gnomAD-4.0.0	1.20032E-06	None	None	None	None	N	None	0	1.01626E-03	None	0	0	None	0	0	0	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
P/A	0.0543	likely_benign	0.0643	benign	-0.699	Destabilizing	None	N	0.177	neutral	N	0.443383317	None	None	N
P/C	0.2289	likely_benign	0.3487	ambiguous	-0.704	Destabilizing	0.356	N	0.405	neutral	None	None	None	None	N
P/D	0.1932	likely_benign	0.2996	benign	-0.375	Destabilizing	0.072	N	0.344	neutral	None	None	None	None	N
P/E	0.1245	likely_benign	0.1665	benign	-0.437	Destabilizing	0.031	N	0.328	neutral	None	None	None	None	N
P/F	0.1726	likely_benign	0.2719	benign	-0.652	Destabilizing	0.214	N	0.447	neutral	None	None	None	None	N
P/G	0.1392	likely_benign	0.2141	benign	-0.895	Destabilizing	0.016	N	0.295	neutral	None	None	None	None	N
P/H	0.0951	likely_benign	0.1179	benign	-0.29	Destabilizing	0.56	D	0.397	neutral	N	0.488013969	None	None	N
P/I	0.1049	likely_benign	0.1479	benign	-0.306	Destabilizing	0.006	N	0.375	neutral	None	None	None	None	N
P/K	0.0918	likely_benign	0.104	benign	-0.624	Destabilizing	0.031	N	0.336	neutral	None	None	None	None	N
P/L	0.0675	likely_benign	0.0802	benign	-0.306	Destabilizing	0.012	N	0.325	neutral	N	0.467255555	None	None	N
P/M	0.1268	likely_benign	0.1773	benign	-0.455	Destabilizing	0.214	N	0.414	neutral	None	None	None	None	N
P/N	0.1234	likely_benign	0.1901	benign	-0.457	Destabilizing	0.072	N	0.401	neutral	None	None	None	None	N
P/Q	0.0766	likely_benign	0.0884	benign	-0.635	Destabilizing	0.136	N	0.399	neutral	None	None	None	None	N
P/R	0.082	likely_benign	0.0892	benign	-0.106	Destabilizing	0.055	N	0.431	neutral	N	0.486902662	None	None	N
P/S	0.0732	likely_benign	0.098	benign	-0.874	Destabilizing	None	N	0.162	neutral	N	0.402875514	None	None	N
P/T	0.0612	likely_benign	0.0822	benign	-0.827	Destabilizing	None	N	0.163	neutral	N	0.443844982	None	None	N
P/V	0.0903	likely_benign	0.1152	benign	-0.402	Destabilizing	None	N	0.221	neutral	None	None	None	None	N
P/W	0.33	likely_benign	0.4564	ambiguous	-0.763	Destabilizing	0.864	D	0.409	neutral	None	None	None	None	N
P/Y	0.1785	likely_benign	0.2555	benign	-0.469	Destabilizing	0.356	N	0.441	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.