UniProtKB/Swiss-Prot P36404 : Variant p.Arg15Leu
ADP-ribosylation factor-like protein 2
Gene: ARL2
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Variant information
Variant position:
15
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:
LP/P [Disclaimer : Variants classification is intended for research purposes only, not for clinical and diagnostic use . The label disease variant is assigned according to literature reports on probable disease-association that can be based on theoretical reasons. This label must not be considered as a definitive proof for the pathogenic role of a variant. ]
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 Arginine (R) to Leucine (L) at position 15 (R15L, p.Arg15Leu).
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 basic (R) 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 MRCS1; decreased interaction with UNC119; decreased interaction with ARL2BP; changed cellular respiration; decreased ATP production.
Any additional useful information about the variant.
Sequence information
Variant position:
15
The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:
184
The length of the canonical sequence.
Location on the sequence:
MGLLTILKKMKQKE
R ELRLLMLGLDNAGKTTILKK
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 MGLLTILKKMKQKER ELRLLMLGLDNAGKTTILKK
Mouse MGLLTILKKMKQKER ELRLLMLGLDNAGKTTILKK
Rat MGLLTILKKMKQKER DVRLLMLGLDNAGKTTILKK
Bovine MGLLTILKKMKQKER ELRLLMLGLDNAGKTTILKK
Caenorhabditis elegans MGFLKILRKQRARER EMRILILGLDNAGKTTLMKK
Drosophila MGFLTVLKKMRQKER EMRILLLGLDNAGKTTILKR
Slime mold MGLLTVLKKLKQKEK ELRILMLGLDNAGKTTILKK
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
Initiator methionine
1 – 1
Removed
Chain
2 – 184
ADP-ribosylation factor-like protein 2
Lipidation
2 – 2
N-myristoyl glycine
Mutagenesis
3 – 3
L -> A. Reduces interaction with ARL2BP.
Mutagenesis
3 – 3
L -> D. Reduces interaction with ARL2BP.
Mutagenesis
4 – 4
L -> A. Does not reduce interaction with ARL2BP.
Mutagenesis
4 – 4
L -> D. Reduces interaction with ARL2BP.
Mutagenesis
6 – 6
I -> R. Reduces interaction with ARL2BP.
Mutagenesis
7 – 7
L -> A. Does not reduce interaction with ARL2BP.
Mutagenesis
7 – 7
L -> D. Reduces interaction with ARL2BP.
Mutagenesis
30 – 30
T -> N. Does not inhibit the interaction with TBCD and rescues the TBCD-induced microtubule destruction. Reduces interaction with ARL2BP. Inhibits accumulation of STAT3 in the nucleus.
Literature citations
Whole-exome sequencing identified ARL2 as a novel candidate gene for MRCS (microcornea, rod-cone dystrophy, cataract, and posterior staphyloma) syndrome.
Cai X.B.; Wu K.C.; Zhang X.; Lv J.N.; Jin G.H.; Xiang L.; Chen J.; Huang X.F.; Pan D.; Lu B.; Lu F.; Qu J.; Jin Z.B.;
Clin. Genet. 96:61-71(2019)
Cited for: INVOLVEMENT IN MRCS1; VARIANT MRCS1 LEU-15; CHARACTERIZATION OF VARIANT MRCS1 LEU-15; FUNCTION; INTERACTION WITH UNC119; INTERACTION WITH ARL2BP; SUBCELLULAR LOCATION;
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.