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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UN37: Variant p.Arg284Trp

Vacuolar protein sorting-associated protein 4A
Gene: VPS4A
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Variant information Variant position: help 284 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 Arginine (R) to Tryptophan (W) at position 284 (R284W, p.Arg284Trp). 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 large size and basic (R) to large size and aromatic (W) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 CIMDAG; has a dominant negative effect on the regulation of endosomal size resulting in enlarged endosomal vacuoles; patient cells also have abnormal nuclear envelope morphology and primary cilium defects; no effect on protein abundance in patient cells; patient-derived induced erythroblasts show defective cytokinesis. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 284 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 437 The length of the canonical sequence.
Location on the sequence: help GTLVLGATNIPWVLDSAIRR R FEKRIYIPLPEEAARAQMFR 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                         GTLVLGATNIPWVLDSAIRRRFEKRIYIPLPEEAARAQMFR

Mouse                         GTLVLGATNIPWVLDSAIRRRFEKRIYIPLPEEAARAQMFR

Rat                           GTLVLGATNIPWVLDSAIRRRFEKRIYIPLPEEAARAQMFR
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 – 437 Vacuolar protein sorting-associated protein 4A



Literature citations
De Novo VPS4A mutations cause multisystem disease with abnormal neurodevelopment.
Rodger C.; Flex E.; Allison R.J.; Sanchis-Juan A.; Hasenahuer M.A.; Cecchetti S.; French C.E.; Edgar J.R.; Carpentieri G.; Ciolfi A.; Pantaleoni F.; Bruselles A.; Onesimo R.; Zampino G.; Marcon F.; Siniscalchi E.; Lees M.; Krishnakumar D.; McCann E.; Yosifova D.; Jarvis J.; Kruer M.C.; Marks W.; Campbell J.; Allen L.E.; Gustincich S.; Raymond F.L.; Tartaglia M.; Reid E.;
Am. J. Hum. Genet. 107:1129-1148(2020)
Cited for: VARIANTS CIMDAG LYS-206; GLY-284 AND TRP-284; CHARACTERIZATION OF VARIANTS CIMDAG GLY-284 AND TRP-284; INVOLVEMENT IN CIMDAG; VARIANTS PRO-168 DEL AND VAL-337; FUNCTION; VPS4A mutations in humans cause syndromic congenital dyserythropoietic anemia due to cytokinesis and trafficking defects.
Seu K.G.; Trump L.R.; Emberesh S.; Lorsbach R.B.; Johnson C.; Meznarich J.; Underhill H.R.; Chou S.T.; Sakthivel H.; Nassar N.N.; Seu K.J.; Blanc L.; Zhang W.; Lutzko C.M.; Kalfa T.A.;
Am. J. Hum. Genet. 107:1149-1156(2020)
Cited for: VARIANTS CIMDAG VAL-28; GLU-203 AND TRP-284; INVOLVEMENT IN CIMDAG; FUNCTION; SUBCELLULAR LOCATION; VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis.
Lunati A.; Petit A.; Lapillonne H.; Gameiro C.; Saillour V.; Garel C.; Doummar D.; Qebibo L.; Aissat A.; Fanen P.; Bartolucci P.; Galacteros F.; Funalot B.; Burglen L.; Mansour-Hendili L.;
Am. J. Hematol. 96:E121-E123(2021)
Cited for: VARIANT CIMDAG TRP-284;
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.