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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N653: Variant p.Arg198Gly

Leucine-zipper-like transcriptional regulator 1
Gene: LZTR1
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Variant information Variant position: help 198
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Glycine (G) at position 198 (R198G, p.Arg198Gly).
Physico-chemical properties: help Change from large size and basic (R) to glycine (G)
BLOSUM score: help -2
Variant description: help In GLM; increased Ras signaling; decreased ubiquitination of Ras.


Sequence information Variant position: help 198
Protein sequence length: help 840
Location on the sequence: help HGATVYSDKLWIFAGYDGNA R LNDMWTIGLQDRELTCWEEV
Residue conservation: help 
Human                         HGATVYSDKLWIFAGYDGNARLNDMWTIGLQDRELTCWEEV

Mouse                         HGATVYSDKLWIFAGYDGNARLNDMWTIGLQDRELTCWEEV

Drosophila                    HGAAVYDNKMWIYAGYDGNARLNDMWTLNLTGENQ--WEEV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 2 – 840 Leucine-zipper-like transcriptional regulator 1
Repeat 187 – 238 Kelch 3
Mutagenesis 193 – 193 Y -> H. Increased RAS-MAPK signaling.
Mutagenesis 193 – 193 Y -> N. Increased RAS-MAPK signaling.



Literature citations
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.