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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NQL2: Variant p.Pro119Leu

Ras-related GTP-binding protein D
Gene: RRAGD
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Variant information Variant position: help 119 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 Proline (P) to Leucine (L) at position 119 (P119L, p.Pro119Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 HOMG7; increased positive regulation of TORC1 signaling; increased phosphorylation of the downstream molecule S6K1. Any additional useful information about the variant.


Sequence information Variant position: help 119 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 400 The length of the canonical sequence.
Location on the sequence: help KICREDVSNSSFVNFQIWDF P GQIDFFDPTFDYEMIFRGTG 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                         KICREDVSNSSFVNFQIWDFPGQIDFFDPTFDYEMIFRGTG

Mouse                         RICREDVSNSSFVNFQIWDFPGQIDFFDPTFDYEMIFRGTG
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 – 400 Ras-related GTP-binding protein D
Binding site 120 – 120
Alternative sequence 1 – 151 Missing. In isoform 2.
Mutagenesis 121 – 121 Q -> L. Decreased RPTOR-binding.



Literature citations
mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy.
Schlingmann K.P.; Jouret F.; Shen K.; Nigam A.; Arjona F.J.; Dafinger C.; Houillier P.; Jones D.P.; Kleinerueschkamp F.; Oh J.; Godefroid N.; Eltan M.; Gueran T.; Burtey S.; Parotte M.C.; Koenig J.; Braun A.; Bos C.; Ibars Serra M.; Rehmann H.; Zwartkruis F.J.T.; Renkema K.Y.; Klingel K.; Schulze-Bahr E.; Schermer B.; Bergmann C.; Altmueller J.; Thiele H.; Beck B.B.; Dahan K.; Sabatini D.; Liebau M.C.; Vargas-Poussou R.; Knoers N.V.A.M.; Konrad M.; de Baaij J.H.F.;
J. Am. Soc. Nephrol. 32:2885-2899(2021)
Cited for: INVOLVEMENT IN HOMG7; VARIANTS HOMG7 LEU-76; TRP-76; PRO-97; ARG-119; LEU-119 AND LYS-221; CHARACTERIZATION OF VARIANTS HOMG7 LEU-76; TRP-76; PRO-97; ARG-119; LEU-119 AND LYS-221; FUNCTION;
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.