UniProtKB/Swiss-Prot P36405: Variant p.Tyr90Cys

ADP-ribosylation factor-like protein 3
Gene: ARL3
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Variant information Variant position:

90 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 Tyrosine (Y) to Cysteine (C) at position 90 (Y90C, p.Tyr90Cys). 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 large size and aromatic (Y) to medium size and polar (C) 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 RP83; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1564730440 [ dbSNP | Ensembl ]

Sequence information Variant position:

90 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

182 The length of the canonical sequence.
Location on the sequence:

GQRKIRPYWKNYFENTDILI Y VIDSADRKRFEETGQELAEL 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                         GQRKIRPYWKNYFENTDILIYVIDSADRKRFEETGQELAEL

Mouse                         GQRKIRPYWRSYFENTDILIYVIDSADRKRFEETGQELTEL

Rat                           GQRKIRPYWRSYFENTDILIYVIDSADRKRFEETGQELTEL

Pig                           GQRKIRPYWRNYFENTDILIYVIDSADRKRFEETGQELAEL

Bovine                        GQRKIRPYWRNYFENTDILIYVIDSADRKRFEETGQELAEL

Xenopus laevis                GQRKIRPYWRNYFENTDVLIYVIDSADRKRFEETGQELAEL

Zebrafish                     GQRKIRPYWRNYFENTDVLIYVIDSADRKRFEETGQELAEL

Caenorhabditis elegans        GQRSIRPYWSNYYENIDTLIFVIDSNDKKRFDEMNIELGEL

Baker's yeast                 GQESLRSMWSEYYSLCHGIIFIVDSSDRERLDECSTTLQSV

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	2 – 182	ADP-ribosylation factor-like protein 3
Binding site	70 – 70
Mutagenesis	71 – 71	Q -> L. Enhances the interaction with RP2. Does not induce a mitotic arrest resulting from the loss of the microtubule-based mitotic spindle. Induces release of myristoylated proteins from UNC119. Interacts with ARL2BP, GOLGA4, PDE6D and UNC119.

Literature citations
De novo occurrence of a variant in ARL3 and apparent autosomal dominant transmission of retinitis pigmentosa.
Strom S.P.; Clark M.J.; Martinez A.; Garcia S.; Abelazeem A.A.; Matynia A.; Parikh S.; Sullivan L.S.; Bowne S.J.; Daiger S.P.; Gorin M.B.;
PLoS ONE 11:E0150944-E0150944(2016)
Cited for: INVOLVEMENT IN RP83; VARIANT RP83 CYS-90;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.