Sequence information
Variant position: 458 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1361 The length of the canonical sequence.
Location on the sequence:
AKKQKREVVKRQDVLYELMQ
T EVHHVRTLKIMLKVYSRALQ
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 AKKQKREVVKRQDVLYELMQT EVHHVRTLKIMLKVYSRALQ
Mouse AKKQKKEVVKRQDVLYELMQT EAHHVRTLKIMLKVYSRALQ
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
Chain
1 – 1361
Rho guanine nucleotide exchange factor 18
Domain
447 – 644
DH
Literature citations
Biallelic mutation of ARHGEF18, involved in the determination of epithelial apicobasal polarity, causes adult-onset retinal degeneration.
Arno G.; Carss K.J.; Hull S.; Zihni C.; Robson A.G.; Fiorentino A.; Hardcastle A.J.; Holder G.E.; Cheetham M.E.; Plagnol V.; Moore A.T.; Raymond F.L.; Matter K.; Balda M.S.; Webster A.R.;
Am. J. Hum. Genet. 100:334-342(2017)
Cited for: FUNCTION; INVOLVEMENT IN RP78; VARIANTS RP78 ALA-458; 854-ARG--PHE-1361 DEL; 1066-GLU--PHE-1361 DEL AND 1101-ARG--GLU-1108 DEL; CHARACTERIZATION OF VARIANTS RP78 ALA-458 AND 1101-ARG--GLU-1108 DEL;
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.