TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	6484	19675;19676;19677	chr2:178728374;178728373;178728372	chr2:179593101;179593100;179593099
N2AB	6167	18724;18725;18726	chr2:178728374;178728373;178728372	chr2:179593101;179593100;179593099
N2A	5240	15943;15944;15945	chr2:178728374;178728373;178728372	chr2:179593101;179593100;179593099
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: ACC
• RefSeq wild type template codon: TGG
• Domain: Ig-49
• Domain position: 4
• Structural Position: 4
• Q(SASA): 0.4253
• 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	rs1425867664	-0.585	0.78	N	0.379	0.16	0.117506650769	gnomAD-2.1.1	4.28E-06	None	None	None	None	N	None	0	0	None	0	5.82E-05	None	0	None	0	0	0
T/A	rs1425867664	-0.585	0.78	N	0.379	0.16	0.117506650769	gnomAD-4.0.0	1.62217E-06	None	None	None	None	N	None	0	0	None	0	2.79189E-05	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
T/A	0.1233	likely_benign	0.1101	benign	-0.602	Destabilizing	0.78	D	0.379	neutral	N	0.467315136	None	None	N
T/C	0.5555	ambiguous	0.5881	pathogenic	-0.366	Destabilizing	0.999	D	0.494	neutral	None	None	None	None	N
T/D	0.4835	ambiguous	0.4549	ambiguous	0.529	Stabilizing	0.996	D	0.47	neutral	None	None	None	None	N
T/E	0.3501	ambiguous	0.3116	benign	0.495	Stabilizing	0.996	D	0.464	neutral	None	None	None	None	N
T/F	0.285	likely_benign	0.2924	benign	-0.923	Destabilizing	0.976	D	0.54	neutral	None	None	None	None	N
T/G	0.3588	ambiguous	0.3407	ambiguous	-0.788	Destabilizing	0.996	D	0.461	neutral	None	None	None	None	N
T/H	0.3283	likely_benign	0.3281	benign	-0.967	Destabilizing	0.999	D	0.555	neutral	None	None	None	None	N
T/I	0.1326	likely_benign	0.1388	benign	-0.217	Destabilizing	0.011	N	0.183	neutral	N	0.442412457	None	None	N
T/K	0.277	likely_benign	0.2406	benign	-0.305	Destabilizing	0.988	D	0.467	neutral	None	None	None	None	N
T/L	0.0937	likely_benign	0.0976	benign	-0.217	Destabilizing	0.702	D	0.366	neutral	None	None	None	None	N
T/M	0.1071	likely_benign	0.1046	benign	-0.094	Destabilizing	0.976	D	0.496	neutral	None	None	None	None	N
T/N	0.1697	likely_benign	0.1751	benign	-0.198	Destabilizing	0.995	D	0.463	neutral	N	0.484458339	None	None	N
T/P	0.28	likely_benign	0.2392	benign	-0.314	Destabilizing	0.995	D	0.498	neutral	N	0.502816084	None	None	N
T/Q	0.256	likely_benign	0.2362	benign	-0.349	Destabilizing	0.996	D	0.487	neutral	None	None	None	None	N
T/R	0.2073	likely_benign	0.1778	benign	-0.08	Destabilizing	0.996	D	0.507	neutral	None	None	None	None	N
T/S	0.1372	likely_benign	0.1397	benign	-0.531	Destabilizing	0.946	D	0.413	neutral	N	0.501154117	None	None	N
T/V	0.1336	likely_benign	0.1393	benign	-0.314	Destabilizing	0.507	D	0.291	neutral	None	None	None	None	N
T/W	0.6369	likely_pathogenic	0.6181	pathogenic	-0.873	Destabilizing	0.999	D	0.633	neutral	None	None	None	None	N
T/Y	0.3822	ambiguous	0.3703	ambiguous	-0.605	Destabilizing	0.996	D	0.543	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.