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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8IXQ5: Variant p.Ala153Val

Kelch-like protein 7
Gene: KLHL7
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Variant information Variant position: help 153 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Alanine (A) to Valine (V) at position 153 (A153V, p.Ala153Val). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In RP42; impairs interaction with CUL3 and ubiquitin ligase activity of the BCR(KLHL7) complex. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 153 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 586 The length of the canonical sequence.
Location on the sequence: help CVDFLKEQVDASNCLGISVL A ECLDCPELKATADDFIHQHF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         CVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHF

Mouse                         CVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHF

Rat                           CVDFLKEQVDASNCLGISVLAECLDCPELKSTADDFIHQHF

Chicken                       CVDFLKEQVDASNCLGISVLAECLDCPELKATADDFIHQHF
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 586 Kelch-like protein 7
Domain 146 – 248 BACK
Alternative sequence 149 – 166 ISVLAECLDCPELKATAD -> EAEKVDQSLPECGMLFTV. In isoform 3 and isoform 4.



Literature citations
Ubiquitin ligase activity of Cul3-KLHL7 protein is attenuated by autosomal dominant retinitis pigmentosa causative mutation.
Kigoshi Y.; Tsuruta F.; Chiba T.;
J. Biol. Chem. 286:33613-33621(2011)
Cited for: FUNCTION; IDENTIFICATION IN THE BCR(KLHL7) COMPLEX; HOMODIMERIZATION; CHARACTERIZATION OF VARIANTS RP42 THR-153 AND VAL-153; 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); Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene.
Hugosson T.; Friedman J.S.; Ponjavic V.; Abrahamson M.; Swaroop A.; Andreasson S.;
Arch. Ophthalmol. 128:772-778(2010)
Cited for: VARIANT RP42 VAL-153; Phenotypic characterization of 3 families with autosomal dominant retinitis pigmentosa due to mutations in KLHL7.
Wen Y.; Locke K.G.; Klein M.; Bowne S.J.; Sullivan L.S.; Ray J.W.; Daiger S.P.; Birch D.G.; Hughbanks-Wheaton D.K.;
Arch. Ophthalmol. 129:1475-1482(2011)
Cited for: VARIANTS RP42 ASN-150; THR-153 AND VAL-153;
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.