TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	22476	67651;67652;67653	chr2:178579771;178579770;178579769	chr2:179444498;179444497;179444496
N2AB	20835	62728;62729;62730	chr2:178579771;178579770;178579769	chr2:179444498;179444497;179444496
N2A	19908	59947;59948;59949	chr2:178579771;178579770;178579769	chr2:179444498;179444497;179444496
N2B	13411	40456;40457;40458	chr2:178579771;178579770;178579769	chr2:179444498;179444497;179444496
Novex-1	13536	40831;40832;40833	chr2:178579771;178579770;178579769	chr2:179444498;179444497;179444496
Novex-2	13603	41032;41033;41034	chr2:178579771;178579770;178579769	chr2:179444498;179444497;179444496
Novex-3	None	None	chr2:None	chr2:None

Information

• RefSeq wild type amino acid: H
• RefSeq wild type transcript codon: CAC
• RefSeq wild type template codon: GTG
• Domain: Fn3-51
• Domain position: 26
• Structural Position: 28
• Q(SASA): 1.0656
• Predicted PPI site: I

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
H/N	None	None	0.007	N	0.203	0.066	0.143124449307	gnomAD-4.0.0	1.20033E-06	None	None	None	None	I	None	0	0	None	0	0	None	0	0	1.31251E-06	0	0
H/R	rs2047271045	None	None	N	0.107	0.046	0.0954503805726	gnomAD-3.1.2	6.58E-06	None	None	None	None	I	None	2.41E-05	0	0	0	0	None	0	0	0	0	0
H/R	rs2047271045	None	None	N	0.107	0.046	0.0954503805726	gnomAD-4.0.0	6.57609E-06	None	None	None	None	I	None	2.41371E-05	0	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
H/A	0.1147	likely_benign	0.1167	benign	0.371	Stabilizing	None	N	0.21	neutral	None	None	None	None	I
H/C	0.1189	likely_benign	0.109	benign	0.512	Stabilizing	0.316	N	0.371	neutral	None	None	None	None	I
H/D	0.1376	likely_benign	0.1497	benign	-0.122	Destabilizing	0.007	N	0.324	neutral	N	0.388839836	None	None	I
H/E	0.1634	likely_benign	0.1763	benign	-0.121	Destabilizing	0.002	N	0.163	neutral	None	None	None	None	I
H/F	0.1811	likely_benign	0.1782	benign	0.849	Stabilizing	None	N	0.169	neutral	None	None	None	None	I
H/G	0.1722	likely_benign	0.1699	benign	0.157	Stabilizing	0.004	N	0.339	neutral	None	None	None	None	I
H/I	0.1095	likely_benign	0.1159	benign	0.894	Stabilizing	None	N	0.201	neutral	None	None	None	None	I
H/K	0.1301	likely_benign	0.1292	benign	0.29	Stabilizing	0.001	N	0.264	neutral	None	None	None	None	I
H/L	0.0553	likely_benign	0.0562	benign	0.894	Stabilizing	None	N	0.197	neutral	N	0.365117615	None	None	I
H/M	0.2257	likely_benign	0.2214	benign	0.593	Stabilizing	0.021	N	0.432	neutral	None	None	None	None	I
H/N	0.0758	likely_benign	0.0794	benign	0.195	Stabilizing	0.007	N	0.203	neutral	N	0.423203126	None	None	I
H/P	0.0985	likely_benign	0.0966	benign	0.743	Stabilizing	0.013	N	0.362	neutral	N	0.422336334	None	None	I
H/Q	0.0968	likely_benign	0.099	benign	0.247	Stabilizing	0.003	N	0.217	neutral	N	0.414044925	None	None	I
H/R	0.0656	likely_benign	0.0667	benign	-0.146	Destabilizing	None	N	0.107	neutral	N	0.413178134	None	None	I
H/S	0.1144	likely_benign	0.1128	benign	0.281	Stabilizing	0.004	N	0.275	neutral	None	None	None	None	I
H/T	0.1272	likely_benign	0.1324	benign	0.374	Stabilizing	0.002	N	0.324	neutral	None	None	None	None	I
H/V	0.0916	likely_benign	0.0946	benign	0.743	Stabilizing	None	N	0.194	neutral	None	None	None	None	I
H/W	0.2965	likely_benign	0.2622	benign	0.746	Stabilizing	0.132	N	0.329	neutral	None	None	None	None	I
H/Y	0.0811	likely_benign	0.0797	benign	1.023	Stabilizing	None	N	0.119	neutral	N	0.456219622	None	None	I

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.