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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N653: Variant p.Arg284Cys

Leucine-zipper-like transcriptional regulator 1
Gene: LZTR1
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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 Cysteine (C) at position 284 (R284C, p.Arg284Cys). 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 medium size and polar (C) 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 NS10 and SWN2; increased RAS-MAPK signaling; decreased stability; no effect on localization to Golgi apparatus. 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 840 The length of the canonical sequence.
Location on the sequence: help TWTRIPTEHLLRGSPPPPQR R YGHTMVAFDRHLYVFGGAAD 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                         TWTRIPTEHLLRGSPP-PPQRRYGHTMVAFDRHLYVFGGAAD

Mouse                         TWTRIPTEHLLRGSPP-PPQRRYGHTMVAFDRHLYVFGGAA

Drosophila                    TWRRISNEPVLRGATSAPPSRRYGHTMVHHDRFLYVFGGSA
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 2 – 840 Leucine-zipper-like transcriptional regulator 1
Repeat 239 – 285 Kelch 4



Literature citations
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome.
Yamamoto G.L.; Aguena M.; Gos M.; Hung C.; Pilch J.; Fahiminiya S.; Abramowicz A.; Cristian I.; Buscarilli M.; Naslavsky M.S.; Malaquias A.C.; Zatz M.; Bodamer O.; Majewski J.; Jorge A.A.; Pereira A.C.; Kim C.A.; Passos-Bueno M.R.; Bertola D.R.;
J. Med. Genet. 52:413-421(2015)
Cited for: INVOLVEMENT IN NS10; VARIANTS NS10 CYS-119; ASN-247; ARG-248; CYS-284 AND TYR-287; VARIANTS LEU-447 AND VAL-647; Dominant Noonan syndrome-causing LZTR1 mutations specifically affect the kelch domain substrate-recognition surface and enhance RAS-MAPK signaling.
Motta M.; Fidan M.; Bellacchio E.; Pantaleoni F.; Schneider-Heieck K.; Coppola S.; Borck G.; Salviati L.; Zenker M.; Cirstea I.C.; Tartaglia M.;
Hum. Mol. Genet. 28:1007-1022(2019)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS NS2 ASP-121; ALA-217; GLN-563 AND THR-821; CHARACTERIZATION OF VARIANTS NS10 ASN-247; ARG-248 AND CYS-284; CHARACTERIZATION OF VARIANTS SWN2 GLN-170; ARG-286 AND ARG-400; MUTAGENESIS OF MET-91 AND TYR-193; Expanding the mutational spectrum of LZTR1 in schwannomatosis.
Paganini I.; Chang V.Y.; Capone G.L.; Vitte J.; Benelli M.; Barbetti L.; Sestini R.; Trevisson E.; Hulsebos T.J.; Giovannini M.; Nelson S.F.; Papi L.;
Eur. J. Hum. Genet. 23:963-968(2015)
Cited for: VARIANTS SWN2 ARG-71; 81-TYR--ILE-840 DEL; VAL-125 DEL; ARG-187; 210-ARG--ILE-840 DEL; CYS-284; 340-ARG--ILE-840 DEL; ARG-400; GLU-465; 603-VAL--ILE-840 DEL; TRP-697; ARG-760 AND 762-GLN--ILE-840 DEL;
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.