UniProtKB/SwissProt variant VAR

Variant information

Variant position:

15

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:

LP/P [Disclaimer]

The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glutamate (E) to Glutamine (Q) at position 15 (E15Q, p.Glu15Gln).

Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:

Change from medium size and acidic (E) to medium size and polar (Q)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

2

The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

Variant description:

Probable disease-associated variant found in patient with an acute aortic dissection and ascending aortic aneurysm.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs1052050835 [ dbSNP | Ensembl ]

Sequence information

Variant position:

15

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

557

The length of the canonical sequence.

Location on the sequence:

MDSDEGYNYEFDED E ECSEEDSGAEEEEDEDDDEP

The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         MDSDEGYNYEFDEDEECSEEDSGAEEEEDEDDDEP

Mouse                         MDSDEGYNYEFDEDEECSEEDSGAEEEEDDDEDEP

Bovine                        MDSDEGYNYEFDEDEECSEEDSGAEEEEDEDDDEP

Xenopus laevis                MDSDEGYNYEFDDEEECSE-ESGADEHEDE-----

Xenopus tropicalis            MDSDEGYNYEFDDEEECSE-DSGADEHEDD-----

Zebrafish                     MDSDEGYNYEFDDEEEECSEDSGEEETADD-----

Drosophila                    MDSD-------NDNDFCDNVDSGNVSSGDDGDD--

Baker's yeast                 MTTD------------TTVFVSGAT----------

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 557	E3 ubiquitin-protein ligase ARIH1

Literature citations

Ari-1 Regulates Myonuclear Organization Together with Parkin and Is Associated with Aortic Aneurysms.
Tan K.L.; Haelterman N.A.; Kwartler C.S.; Regalado E.S.; Lee P.T.; Nagarkar-Jaiswal S.; Guo D.C.; Duraine L.; Wangler M.F.; Bamshad M.J.; Nickerson D.A.; Lin G.; Milewicz D.M.; Bellen H.J.;
Dev. Cell 45:226-244(2018)
Cited for: FUNCTION; POSSIBLE INVOLVEMENT IN AORTIC ANEURYSM; VARIANTS GLN-15; GLY-44 AND 171-ARG--ASP-557;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y4X5: Variant p.Glu15Gln