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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P19532: Variant p.Pro186Leu

Transcription factor E3
Gene: TFE3
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Variant information Variant position: help 186 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 186 (P186L, p.Pro186Leu). 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 MRXSPF; abolished bolished interaction with small GTPases Rag (RagA/RRAGA and RagC/RRAGC). Any additional useful information about the variant.


Sequence information Variant position: help 186 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 575 The length of the canonical sequence.
Location on the sequence: help RPPPAQVPREVLKVQTHLEN P TRYHLQQARRQQVKQYLSTT 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                         RPPPAQVPREVLKVQTHLENPTRYHLQQARRQQVKQYLSTT

Mouse                         RPPPAQVPREVLKVQTHLENPTRYHLQQARRQQVKQYLSTT

Bovine                        RPPPAQVPREVLKVQTHLENPTRYHLQQARRQQVKQYLSTT
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 – 575 Transcription factor E3
Modified residue 188 – 188 Asymmetric dimethylarginine
Alternative sequence 110 – 575 Missing. In isoform 2.



Literature citations
A central role for regulated protein stability in the control of TFE3 and MITF by nutrients.
Nardone C.; Palanski B.A.; Scott D.C.; Timms R.T.; Barber K.W.; Gu X.; Mao A.; Leng Y.; Watson E.V.; Schulman B.A.; Cole P.A.; Elledge S.J.;
Mol. Cell 83:57-73(2023)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH SMALL GTPASES RAG; PHOSPHORYLATION AT SER-47 AND SER-321; UBIQUITINATION; MUTAGENESIS OF SER-47; SER-321 AND 356-ARG--ARG-359; VARIANTS MRXSPF GLY-184; LEU-186; MET-187; CYS-189; GLN-190; PRO-191 AND PRO-201; CHARACTERIZATION OF VARIANTS MRXSPF GLY-184; LEU-186; MET-187; CYS-189; GLN-190; PRO-191 AND PRO-201; Lysosomal signaling licenses embryonic stem cell differentiation via inactivation of Tfe3.
Villegas F.; Lehalle D.; Mayer D.; Rittirsch M.; Stadler M.B.; Zinner M.; Olivieri D.; Vabres P.; Duplomb-Jego L.; De Bont E.S.J.M.; Duffourd Y.; Duijkers F.; Avila M.; Genevieve D.; Houcinat N.; Jouan T.; Kuentz P.; Lichtenbelt K.D.; Thauvin-Robinet C.; St-Onge J.; Thevenon J.; van Gassen K.L.I.; van Haelst M.; van Koningsbruggen S.; Hess D.; Smallwood S.A.; Riviere J.B.; Faivre L.; Betschinger J.;
Cell Stem Cell 24:257-270(2019)
Cited for: VARIANTS MRXSPF PRO-119; LEU-186; ARG-187; MET-187 AND PRO-201; INVOLVEMENT IN MRXSPF;
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.