TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	8914	26965;26966;26967	chr2:178713918;178713917;178713916	chr2:179578645;179578644;179578643
N2AB	8597	26014;26015;26016	chr2:178713918;178713917;178713916	chr2:179578645;179578644;179578643
N2A	7670	23233;23234;23235	chr2:178713918;178713917;178713916	chr2:179578645;179578644;179578643
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-74
• Domain position: 85
• Structural Position: 171
• Q(SASA): 0.3768
• 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	rs1387091014	-0.612	0.055	N	0.547	0.147	0.222439326576	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	2.9E-05	None	0	0	None	0	None	0	0	0
T/A	rs1387091014	-0.612	0.055	N	0.547	0.147	0.222439326576	gnomAD-3.1.2	6.57E-06	None	None	None	None	N	None	0	6.55E-05	0	0	0	None	0	0	0	0	0
T/A	rs1387091014	-0.612	0.055	N	0.547	0.147	0.222439326576	gnomAD-4.0.0	2.56299E-06	None	None	None	None	N	None	0	3.39109E-05	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
T/A	0.0904	likely_benign	0.098	benign	-0.499	Destabilizing	0.055	N	0.547	neutral	N	0.49492523	None	None	N
T/C	0.4359	ambiguous	0.4733	ambiguous	-0.223	Destabilizing	0.968	D	0.725	prob.delet.	None	None	None	None	N
T/D	0.3185	likely_benign	0.3657	ambiguous	0.001	Stabilizing	0.272	N	0.69	prob.neutral	None	None	None	None	N
T/E	0.2083	likely_benign	0.2166	benign	-0.068	Destabilizing	0.157	N	0.635	neutral	None	None	None	None	N
T/F	0.1516	likely_benign	0.1813	benign	-0.917	Destabilizing	0.89	D	0.795	deleterious	None	None	None	None	N
T/G	0.2565	likely_benign	0.2821	benign	-0.655	Destabilizing	0.272	N	0.732	prob.delet.	None	None	None	None	N
T/H	0.1844	likely_benign	0.1959	benign	-1.011	Destabilizing	0.909	D	0.781	deleterious	None	None	None	None	N
T/I	0.1344	likely_benign	0.1469	benign	-0.2	Destabilizing	0.667	D	0.735	prob.delet.	N	0.518052806	None	None	N
T/K	0.125	likely_benign	0.1159	benign	-0.472	Destabilizing	None	N	0.359	neutral	N	0.496519954	None	None	N
T/L	0.0907	likely_benign	0.0952	benign	-0.2	Destabilizing	0.272	N	0.633	neutral	None	None	None	None	N
T/M	0.0847	likely_benign	0.0886	benign	0.102	Stabilizing	0.968	D	0.729	prob.delet.	None	None	None	None	N
T/N	0.1231	likely_benign	0.1414	benign	-0.203	Destabilizing	0.272	N	0.559	neutral	None	None	None	None	N
T/P	0.1827	likely_benign	0.2102	benign	-0.27	Destabilizing	0.667	D	0.706	prob.neutral	D	0.524325418	None	None	N
T/Q	0.1596	likely_benign	0.1502	benign	-0.465	Destabilizing	0.396	N	0.711	prob.delet.	None	None	None	None	N
T/R	0.0996	likely_benign	0.0995	benign	-0.187	Destabilizing	0.124	N	0.673	neutral	D	0.525536139	None	None	N
T/S	0.0908	likely_benign	0.1014	benign	-0.42	Destabilizing	0.055	N	0.542	neutral	N	0.445053771	None	None	N
T/V	0.1167	likely_benign	0.1232	benign	-0.27	Destabilizing	0.272	N	0.533	neutral	None	None	None	None	N
T/W	0.4707	ambiguous	0.5055	ambiguous	-0.887	Destabilizing	0.968	D	0.778	deleterious	None	None	None	None	N
T/Y	0.2072	likely_benign	0.2368	benign	-0.627	Destabilizing	0.89	D	0.795	deleterious	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.