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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Serine (S) to Leucine (L) at position 122 (S122L, p.Ser122Leu).
Physico-chemical properties: help Change from small size and polar (S) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In SWN2; increased Ras signaling; decreased binding to Ras.
Other resources: help


Sequence information Variant position: help 122
Protein sequence length: help 840
Location on the sequence: help DCSWCRAFTTGTPPAPRYHH S AVVYGSSMFVFGGYTGDIYS
Residue conservation: help 
Human                         DCSWCRAFTTGTPPAPRYHHSAVVYGSSMFVFGGYTGDIYS

Mouse                         DCSWCRAFTTGTPPAPRYHHSAVVYGSSMFVFGGYTGDIYS

Drosophila                    DKSWGRACATGTPPAPRYHHSAVVAGSSMFIFGGYTGDIHS
Sequence annotation in neighborhood: help
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.