Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q15042: Variant p.Glu24Val

Rab3 GTPase-activating protein catalytic subunit
Gene: RAB3GAP1
Feedback?
Variant information Variant position: help 24 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 Glutamate (E) to Valine (V) at position 24 (E24V, p.Glu24Val). 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 acidic (E) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In WARBM1; abolishes GEF activity towards RAB18; loss of RAB18 membrane association; no effect on GAP activity; no effect on GAP activity towards the RAB3 proteins RAB5A or RAB43. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 24 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 981 The length of the canonical sequence.
Location on the sequence: help DSEPESEVFEITDFTTASEW E RFISKVEEVLNDWKLIGNSL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSL

Mouse                         DSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGPSL

Xenopus laevis                DSDPESEVFEITDFTTASEWERFISKVEEVLTEWKLIGETS

Zebrafish                     DSDPESEVFEITDFTTASEWERFISRVEEVLNDWKLIGSRV

Caenorhabditis elegans        EIE-ENTVFEINDFTIVTDMEHFGAAFEGILQKYEF---SS

Drosophila                    EID-DNE-FYRENFSADSDWEVFNAQLGEILQKWDVSSDSE
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 1 – 981 Rab3 GTPase-activating protein catalytic subunit
Alternative sequence 1 – 50 MAADSEPESEVFEITDFTTASEWERFISKVEEVLNDWKLIGNSLGKPLEK -> MFSLIS. In isoform 3.



Literature citations
Mutation spectrum in RAB3GAP1, RAB3GAP2, and RAB18 and genotype-phenotype correlations in Warburg micro syndrome and Martsolf syndrome.
Handley M.T.; Morris-Rosendahl D.J.; Brown S.; Macdonald F.; Hardy C.; Bem D.; Carpanini S.M.; Borck G.; Martorell L.; Izzi C.; Faravelli F.; Accorsi P.; Pinelli L.; Basel-Vanagaite L.; Peretz G.; Abdel-Salam G.M.; Zaki M.S.; Jansen A.; Mowat D.; Glass I.; Stewart H.; Mancini G.; Lederer D.; Roscioli T.; Giuliano F.; Plomp A.S.; Rolfs A.; Graham J.M.; Seemanova E.; Poo P.; Garcia-Cazorla A.; Edery P.; Jackson I.J.; Maher E.R.; Aligianis I.A.;
Hum. Mutat. 34:686-696(2013)
Cited for: VARIANTS WARBM1 PRO-18 AND VAL-24; FUNCTION; Rab18 and a Rab18 GEF complex are required for normal ER structure.
Gerondopoulos A.; Bastos R.N.; Yoshimura S.; Anderson R.; Carpanini S.; Aligianis I.; Handley M.T.; Barr F.A.;
J. Cell Biol. 205:707-720(2014)
Cited for: CHARACTERIZATION OF VARIANTS WARBM1 PRO-18 AND VAL-24; FUNCTION; 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.