TITINdb

Isoform Positions

Isoform	Protein Position	Transcript Position	Chromosomal Position (HG38)	Chromosomal Position (HG19)
IC	4889	14890;14891;14892	chr2:178735781;178735780;178735779	chr2:179600508;179600507;179600506
N2AB	4572	13939;13940;13941	chr2:178735781;178735780;178735779	chr2:179600508;179600507;179600506
N2A	3645	11158;11159;11160	chr2:178735781;178735780;178735779	chr2:179600508;179600507;179600506
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: H
• RefSeq wild type transcript codon: CAT
• RefSeq wild type template codon: GTA
• Domain: Ig-32
• Domain position: 2
• Structural Position: 2
• Q(SASA): 0.4957
• 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
H/R	rs766842583	-0.694	None	N	0.154	0.143	0.0666544352282	gnomAD-2.1.1	4.03E-06	None	None	None	None	N	None	0	0	None	0	0	None	3.27E-05	None	0	0	0
H/R	rs766842583	-0.694	None	N	0.154	0.143	0.0666544352282	gnomAD-4.0.0	2.73702E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	8.99465E-07	3.47818E-05	0
H/Y	None	None	0.106	N	0.454	0.19	0.201204373187	gnomAD-4.0.0	1.59151E-06	None	None	None	None	N	None	0	0	None	0	0	None	0	0	0	1.43279E-05	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	0.2341	likely_benign	0.1794	benign	0.327	Stabilizing	0.007	N	0.339	neutral	None	None	None	None	N
H/C	0.1111	likely_benign	0.088	benign	0.766	Stabilizing	0.864	D	0.525	neutral	None	None	None	None	N
H/D	0.2321	likely_benign	0.2004	benign	-0.12	Destabilizing	0.055	N	0.475	neutral	N	0.430596323	None	None	N
H/E	0.2837	likely_benign	0.2284	benign	-0.08	Destabilizing	0.016	N	0.349	neutral	None	None	None	None	N
H/F	0.3068	likely_benign	0.2323	benign	1.15	Stabilizing	0.356	N	0.555	neutral	None	None	None	None	N
H/G	0.2577	likely_benign	0.2066	benign	0.03	Stabilizing	0.031	N	0.374	neutral	None	None	None	None	N
H/I	0.2433	likely_benign	0.1844	benign	1.094	Stabilizing	0.356	N	0.575	neutral	None	None	None	None	N
H/K	0.1864	likely_benign	0.1572	benign	0.319	Stabilizing	0.016	N	0.399	neutral	None	None	None	None	N
H/L	0.1125	likely_benign	0.0957	benign	1.094	Stabilizing	0.055	N	0.485	neutral	N	0.456861703	None	None	N
H/M	0.4359	ambiguous	0.347	ambiguous	0.769	Stabilizing	0.628	D	0.524	neutral	None	None	None	None	N
H/N	0.1108	likely_benign	0.0988	benign	0.22	Stabilizing	0.024	N	0.375	neutral	N	0.438083607	None	None	N
H/P	0.4001	ambiguous	0.4205	ambiguous	0.863	Stabilizing	0.106	N	0.591	neutral	N	0.506351438	None	None	N
H/Q	0.1411	likely_benign	0.1144	benign	0.35	Stabilizing	0.055	N	0.449	neutral	N	0.418841012	None	None	N
H/R	0.0695	likely_benign	0.0633	benign	-0.322	Destabilizing	None	N	0.154	neutral	N	0.381555337	None	None	N
H/S	0.183	likely_benign	0.1522	benign	0.361	Stabilizing	None	N	0.253	neutral	None	None	None	None	N
H/T	0.2097	likely_benign	0.1613	benign	0.505	Stabilizing	0.016	N	0.4	neutral	None	None	None	None	N
H/V	0.1995	likely_benign	0.1572	benign	0.863	Stabilizing	0.072	N	0.567	neutral	None	None	None	None	N
H/W	0.3018	likely_benign	0.2437	benign	1.169	Stabilizing	0.864	D	0.532	neutral	None	None	None	None	N
H/Y	0.0897	likely_benign	0.0793	benign	1.387	Stabilizing	0.106	N	0.454	neutral	N	0.35705943	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.