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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N653: Variant p.Ser122Leu

Leucine-zipper-like transcriptional regulator 1
Gene: LZTR1
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Variant information Variant position: help 122 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 Serine (S) to Leucine (L) at position 122 (S122L, p.Ser122Leu). 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 small size and polar (S) to medium size and hydrophobic (L) 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 SWN2; increased Ras signaling; decreased binding to Ras. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 122 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 DCSWCRAFTTGTPPAPRYHH S AVVYGSSMFVFGGYTGDIYS 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                         DCSWCRAFTTGTPPAPRYHHSAVVYGSSMFVFGGYTGDIYS

Mouse                         DCSWCRAFTTGTPPAPRYHHSAVVYGSSMFVFGGYTGDIYS

Drosophila                    DKSWGRACATGTPPAPRYHHSAVVAGSSMFIFGGYTGDIHS
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 79 – 128 Kelch 1



Literature citations
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A.; Xie J.; Liu Y.F.; Poplawski A.B.; Gomes A.R.; Madanecki P.; Fu C.; Crowley M.R.; Crossman D.K.; Armstrong L.; Babovic-Vuksanovic D.; Bergner A.; Blakeley J.O.; Blumenthal A.L.; Daniels M.S.; Feit H.; Gardner K.; Hurst S.; Kobelka C.; Lee C.; Nagy R.; Rauen K.A.; Slopis J.M.; Suwannarat P.; Westman J.A.; Zanko A.; Korf B.R.; Messiaen L.M.;
Nat. Genet. 46:182-187(2014)
Cited for: INVOLVEMENT IN SWN2; VARIANTS SWN2 LEU-122; ARG-404; GLY-456; GLN-466; LEU-520; CYS-688 AND ILE-813; Mutations in LZTR1 drive human disease by dysregulating RAS ubiquitination.
Steklov M.; Pandolfi S.; Baietti M.F.; Batiuk A.; Carai P.; Najm P.; Zhang M.; Jang H.; Renzi F.; Cai Y.; Abbasi Asbagh L.; Pastor T.; De Troyer M.; Simicek M.; Radaelli E.; Brems H.; Legius E.; Tavernier J.; Gevaert K.; Impens F.; Messiaen L.; Nussinov R.; Heymans S.; Eyckerman S.; Sablina A.A.;
Science 362:1177-1182(2018)
Cited for: FUNCTION; SUBUNIT; PATHWAY; INTERACTION WITH CUL3; KRAS; NRAS AND HRAS; SUBCELLULAR LOCATION; VARIANT SWN2 PRO-812; CHARACTERIZATION OF VARIANTS SWN2 LEU-122; ARG-187; ARG-202; ARG-404; GLN-466; CYS-688 AND PRO-812; CHARACTERIZATION OF VARIANT NS10 726-TYR--ILE-840 DEL; LZTR1 is a regulator of RAS ubiquitination and signaling.
Bigenzahn J.W.; Collu G.M.; Kartnig F.; Pieraks M.; Vladimer G.I.; Heinz L.X.; Sedlyarov V.; Schischlik F.; Fauster A.; Rebsamen M.; Parapatics K.; Blomen V.A.; Mueller A.C.; Winter G.E.; Kralovics R.; Brummelkamp T.R.; Mlodzik M.; Superti-Furga G.;
Science 362:1171-1177(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH CUL3; VARIANTS GLM ARG-105; GLY-198; ARG-248; ILE-288 AND TRP-810; CHARACTERIZATION OF VARIANTS GLM ARG-105; GLY-198; ARG-248; ILE-288 AND TRP-810; CHARACTERIZATION OF VARIANTS NS10 CYS-119; ASN-247; ARG-248 AND TYR-287; CHARACTERIZATION OF VARIANTS SWN2 LEU-122; ARG-404; GLY-456; GLN-466; LEU-520; CYS-688 AND ILE-813;
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.