Variant position: 364 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 624 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 AYNPSDGTWLRLADLQVPRS GLAGCVVGGLLYAVGGRNNSP
Mouse AYNPSNGSWLRLADLQVPRS GLAGCVVGGLLYAVGGRNNSP
Rat AYNPSNGSWLRLADLQVPRS GLAGCVVGGLLYAVGGRNNSP
Pig AYNPSDGTWLRLADLQVPRS GLAGCVVGGLLYAVGGRNNSP
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
1 – 624 Kelch-like ECH-associated protein 1
327 – 372 Kelch 1
380 – 380 R -> A. Loss of interaction with NFE2L2/NRF2. Abolishes repression of NFE2L2/NRF2-dependent gene expression. Impaired interaction with SQSTM1/p62.
382 – 382 N -> A. Loss of interaction with NFE2L2/NRF2. Strongly reduces repression of NFE2L2/NRF2-dependent gene expression. Impaired interaction with SQSTM1/p62.
362 – 364
Structural basis for defects of Keap1 activity provoked by its point mutations in lung cancer.
Padmanabhan B.; Tong K.I.; Ohta T.; Nakamura Y.; Scharlock M.; Ohtsuji M.; Kang M.; Kobayashi A.; Yokoyama S.; Yamamoto M.;
Mol. Cell 21:689-700(2006)
Cited for: VARIANTS CYS-364 AND CYS-430; CHARACTERIZATION OF VARIANTS CYS-364 AND CYS-430;
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.