UniProtKB/SwissProt variant VAR

Variant information

Variant position:

177

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

Type of variant:

US

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 Serine (S) to Leucine (L) at position 177 (S177L, p.Ser177Leu).

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 small size and polar (S) to medium size and hydrophobic (L)

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:

In CONDSIAS; unknown pathological significance.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs200626873 [ dbSNP | Ensembl ]

Sequence information

Variant position:

177

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

Protein sequence length:

363

The length of the canonical sequence.

Location on the sequence:

VAGISLAYSSVQDVQKFARL S AQLTHASSLGYNGAILQALA

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                         VAGISLAYSSVQDVQKFARLSAQLTHASSLGYNGAILQALA

Mouse                         VAGISLAYSSVQDVQKFARLSAQLTHASSLGYNGAILQALA

Bovine                        VAGISLAYSSVQDVQKFARLSAQLTHASSLGYNGAILQALA

Chicken                       VAGIPLTYSDVQDVKKFAKLSAELTHANSLGYNGAILQALA

Xenopus tropicalis            VVGISLAYPRIPDIIEYARTSGMLTHASSLGYNGAILQALA

Zebrafish                     AVPFALAFRSRADVRKYSRFGAMLTHSCSLGYNGAALQALA

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 – 363	ADP-ribose glycohydrolase ARH3
Binding site	182 – 182	Substrate
Mutagenesis	182 – 182	H -> QA. Complete loss of activity. Abolished recruitment to DNA lesion regions following DNA damage. Abolished ability to hydrolyze proteins ADP-ribosylated on serine.
Helix	167 – 179

Literature citations

Biallelic mutations in ADPRHL2, encoding ADP-ribosylhydrolase 3, lead to a degenerative pediatric stress-induced epileptic ataxia syndrome.
Ghosh S.G.; Becker K.; Huang H.; Dixon-Salazar T.; Chai G.; Salpietro V.; Al-Gazali L.; Waisfisz Q.; Wang H.; Vaux K.K.; Stanley V.; Manole A.; Akpulat U.; Weiss M.M.; Efthymiou S.; Hanna M.G.; Minetti C.; Striano P.; Pisciotta L.; De Grandis E.; Altmueller J.; Nuernberg P.; Thiele H.; Yis U.; Okur T.D.; Polat A.I.; Amiri N.; Doosti M.; Karimani E.G.; Toosi M.B.; Haddad G.; Karakaya M.; Wirth B.; van Hagen J.M.; Wolf N.I.; Maroofian R.; Houlden H.; Cirak S.; Gleeson J.G.;
Am. J. Hum. Genet. 103:431-439(2018)
Cited for: INVOLVEMENT IN CONDSIAS; VARIANTS CONDSIAS ASN-34; PRO-79; 106-GLN--SER-363 DEL; LEU-177 AND 334-GLN--SER-363 DEL; CHARACTERIZATION OF VARIANTS CONDSIAS PRO-79; 106-GLN--SER-363 DEL AND 334-GLN--SER-363 DEL;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NX46: Variant p.Ser177Leu