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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61224: Variant p.Gly60Arg

Ras-related protein Rap-1b
Gene: RAP1B
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Variant information Variant position: help 60 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 Glycine (G) to Arginine (R) at position 60 (G60R, p.Gly60Arg). 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 glycine (G) to large size and basic (R) 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 THC11; likely pathogenic. Any additional useful information about the variant.


Sequence information Variant position: help 60 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 184 The length of the canonical sequence.
Location on the sequence: help YRKQVEVDAQQCMLEILDTA G TEQFTAMRDLYMKNGQGFAL 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                         YRKQVEVDAQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL

Chimpanzee                    YRKQVEVDAQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL

Mouse                         YRKQVEVDAQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL

Rat                           YRKQVEVDAQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL

Bovine                        YRKQVEVDAQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL

Chicken                       YRKQVEVDAQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL

Xenopus laevis                YRKQVEVDGQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL

Xenopus tropicalis            YRKQVEVDGQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL

Zebrafish                     YRKQVEVDGQQCMLEILDTAGTEQFTAMRDLYMKNGQGFAL
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 – 181 Ras-related protein Rap-1b
Region 25 – 67 Interaction with KRIT1
Binding site 57 – 61
Alternative sequence 20 – 61 Missing. In isoform 4.
Alternative sequence 43 – 61 Missing. In isoform 3.
Mutagenesis 63 – 63 Q -> E. Abolishes complex formation with RAP1GAP. Loss GTPase activity.
Mutagenesis 64 – 64 F -> A. Abolishes complex formation with RAP1GAP. Loss GTPase activity.
Beta strand 60 – 62



Literature citations
De novo missense variants in the RAP1B gene identified in two patients with syndromic thrombocytopenia.
Niemann J.H.; Du C.; Morlot S.; Schmidt G.; Auber B.; Kaune B.; Goehring G.; Ripperger T.; Schlegelberger B.; Hofmann W.; Smol T.; Ait-Yahya E.; Raimbault A.; Lambilliotte A.; Petit F.; Steinemann D.;
Clin. Genet. 98:374-378(2020)
Cited for: VARIANTS THC11 VAL-12 AND ARG-60; INVOLVEMENT IN THC11; Adding to the evidence of gene-disease association of RAP1B and syndromic thrombocytopenia.
Pardo L.M.; Aanicai R.; Zonic E.; Hakonen A.H.; Zielske S.; Bauer P.; Bertoli-Avella A.M.;
Clin. Genet. 105:196-201(2024)
Cited for: VARIANTS THC11 GLU-12 AND ARG-60; INVOLVEMENT IN THC11;
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.