Variant position: 284 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 VQALLRAVRCHSLTPNFLQM QLQKCEILQSDSRCKDYLVKI
Mouse VQALLRAVRCHALTPRFLQT QLQKCEILQADARCKDYLVQI
Rat VQALLRAVRCHALTPRFLQT QLQKCEILQADARCKDYLVQI
Pig VQALLRAVRCHSLTPHFLQM QLQKCEILQSDSRCKDYLVKI
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
184 – 286 BACK
273 – 273 Sensor for electrophilic agents
288 – 288 Sensor for electrophilic agents
273 – 273 S-(2,3-dicarboxypropyl)cysteine
288 – 288 S-(2,3-dicarboxypropyl)cysteine; alternate
288 – 288 S-(2-succinyl)cysteine; alternate
273 – 273 C -> S. Abolishes repression of NFE2L2/NRF2-dependent gene expression. Slows down degradation of NFE2L2/NRF2.
288 – 288 C -> S. Abolishes repression of NFE2L2/NRF2-dependent gene expression. Slows down degradation of NFE2L2/NRF2.
Dysfunctional KEAP1-NRF2 interaction in non-small-cell lung cancer.
Singh A.; Misra V.; Thimmulappa R.K.; Lee H.; Ames S.; Hoque M.O.; Herman J.G.; Baylin S.B.; Sidransky D.; Gabrielson E.; Brock M.V.; Biswal S.;
PLoS Med. 3:1865-1876(2006)
Cited for: VARIANTS PHE-167; HIS-236; LEU-284; CYS-333 AND SER-350; CHARACTERIZATION OF VARIANTS HIS-236 AND CYS-333;
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.