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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P84095: Variant p.Glu171Lys

Rho-related GTP-binding protein RhoG
Gene: RHOG
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Variant information Variant position: help 171 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 Lysine (K) at position 171 (E171K, p.Glu171Lys). 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 large size and basic (K) 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 Found in a patient with hemophagocytic lymphohistiocytosis; likely pathogenic; reduced protein stability. Any additional useful information about the variant.


Sequence information Variant position: help 171 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 191 The length of the canonical sequence.
Location on the sequence: help AVRYLECSALQQDGVKEVFA E AVRAVLNPTPIKRGRSCILL 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                         AVRYLECSALQQDGVKEVFAEAVRAVLNPTPIKRGRSCILL

Mouse                         AVRYLECSALQQDGVKEVFAEAVRAVLNPTPIKRGRSCILL
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 – 188 Rho-related GTP-binding protein RhoG
Modified residue 180 – 180 Phosphothreonine
Modified residue 188 – 188 Cysteine methyl ester
Lipidation 188 – 188 S-geranylgeranyl cysteine
Helix 165 – 177



Literature citations
RhoG deficiency abrogates cytotoxicity of human lymphocytes and causes hemophagocytic lymphohistiocytosis.
Kalinichenko A.; Perinetti Casoni G.; Dupre L.; Trotta L.; Huemer J.; Galgano D.; German Y.; Haladik B.; Pazmandi J.; Thian M.; Yuece Petronczki O.; Chiang S.C.; Taskinen M.; Hekkala A.; Kauppila S.; Lindgren O.; Tapiainen T.; Kraakman M.J.; Vettenranta K.; Lomakin A.J.; Saarela J.; Seppaenen M.R.J.; Bryceson Y.T.; Boztug K.;
Blood 137:2033-2045(2021)
Cited for: INVOLVEMENT IN HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; VARIANT HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS LYS-171; FUNCTION; INTERACTION WITH UNC13D;
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.