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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H0F7: Variant p.Thr31Arg

ADP-ribosylation factor-like protein 6
Gene: ARL6
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Variant information Variant position: help 31 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Threonine (T) to Arginine (R) at position 31 (T31R, p.Thr31Arg). 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: help Change from medium size and polar (T) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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: help In BBS3; locked in a GDP-bound state that differs from its wild-type counterpart which is mainly GTP-bound; increased proteasomal degradation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 31 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 186 The length of the canonical sequence.
Location on the sequence: help LGLKKKEVHVLCLGLDNSGK T TIINKLKPSNAQSQNILPTI 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.
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 2 – 186 ADP-ribosylation factor-like protein 6
Binding site 24 – 31
Binding site 31 – 31
Binding site 50 – 50
Binding site 50 – 50
Helix 30 – 36



Literature citations
Bardet-Biedl syndrome-associated small GTPase ARL6 (BBS3) functions at or near the ciliary gate and modulates Wnt signaling.
Wiens C.J.; Tong Y.; Esmail M.A.; Oh E.; Gerdes J.M.; Wang J.; Tempel W.; Rattner J.B.; Katsanis N.; Park H.W.; Leroux M.R.;
J. Biol. Chem. 285:16218-16230(2010)
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 16-186 IN COMPLEX WITH GTP AND MAGNESIUM; FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS MET-31; ARG-31; ALA-169 AND TRP-170; Mutations in a member of the Ras superfamily of small GTP-binding proteins causes Bardet-Biedl syndrome.
Fan Y.; Esmail M.A.; Ansley S.J.; Blacque O.E.; Boroevich K.; Ross A.J.; Moore S.J.; Badano J.L.; May-Simera H.; Compton D.S.; Green J.S.; Lewis R.A.; van Haelst M.M.; Parfrey P.S.; Baillie D.L.; Beales P.L.; Katsanis N.; Davidson W.S.; Leroux M.R.;
Nat. Genet. 36:989-993(2004)
Cited for: VARIANTS BBS3 ARG-31; MET-31; ALA-169 AND TRP-170; Biochemical characterization of missense mutations in the Arf/Arl-family small GTPase Arl6 causing Bardet-Biedl syndrome.
Kobayashi T.; Hori Y.; Ueda N.; Kajiho H.; Muraoka S.; Shima F.; Kataoka T.; Kontani K.; Katada T.;
Biochem. Biophys. Res. Commun. 381:439-442(2009)
Cited for: CHARACTERIZATION OF VARIANTS MET-31; ARG-31; ALA-169 AND TRP-170;
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.