Variant position: 472 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 586 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 EVYDPATETWTELCPMIEAR KNHGLVFVKDKIFAVGGQNGL
Mouse EVYDPATETWTELCSMIEPR KNHGLVFVKDKIFAVGGQNGL
Rat EVYDPATETWTELCSMIEPR KNHGLVFVKDKIFAVGGQNGL
Chicken EVYDPATETWTELCPMIEAR KNHGLVFVKDKIFAVGGQNGL
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 – 586 Kelch-like protein 7
431 – 481 Kelch 4
167 – 586 Missing. In isoform 3 and isoform 4.
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Friedman J.S.; Ray J.W.; Waseem N.; Johnson K.; Brooks M.J.; Hugosson T.; Breuer D.; Branham K.E.; Krauth D.S.; Bowne S.J.; Sullivan L.S.; Ponjavic V.; Graense L.; Khanna R.; Trager E.H.; Gieser L.M.; Hughbanks-Wheaton D.; Cojocaru R.I.; Ghiasvand N.M.; Chakarova C.F.; Abrahamson M.; Goering H.H.H.; Webster A.R.; Birch D.G.; Abecasis G.R.; Fann Y.; Bhattacharya S.S.; Daiger S.P.; Heckenlively J.R.; Andreasson S.; Swaroop A.;
Am. J. Hum. Genet. 84:792-800(2009)
Cited for: VARIANTS RP42 ASN-150; THR-153 AND VAL-153; VARIANTS ASN-255; TYR-423 AND GLN-472; VARIANT ARG-18 (ISOFORM 2);
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.