Variant position: 283 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 840 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KTWTRIPTEHLLRGSPP-PPQ RRYGHTMVAFDRHLYVFGGAA
Mouse KTWTRIPTEHLLRGSPP-PPQ RRYGHTMVAFDRHLYVFGGA
Drosophila RTWRRISNEPVLRGATSAPPS RRYGHTMVHHDRFLYVFGGS
Sequence annotation in neighborhood: 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.
Type Positions Description
2 – 840 Leucine-zipper-like transcriptional regulator 1
239 – 285 Kelch 4
Delineation of LZTR1 mutation-positive patients with Noonan syndrome and identification of LZTR1 binding to RAF1-PPP1CB complexes.
Umeki I.; Niihori T.; Abe T.; Kanno S.I.; Okamoto N.; Mizuno S.; Kurosawa K.; Nagasaki K.; Yoshida M.; Ohashi H.; Inoue S.I.; Matsubara Y.; Fujiwara I.; Kure S.; Aoki Y.;
Hum. Genet. 138:21-35(2019)
Cited for: VARIANTS NS10 SER-143; ARG-248; ASN-253 DEL; GLN-283 AND PRO-554; VARIANT NS2 HIS-701; INTERACTION WITH RAF1; SHOC2 AND PPP1CB;
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.