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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BX79: Variant p.Arg655Cys

Receptor for retinol uptake STRA6
Gene: STRA6
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Variant information Variant position: help 655 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 Arginine (R) to Cysteine (C) at position 655 (R655C, p.Arg655Cys). 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 large size and basic (R) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 MCOPS9. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 655 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 667 The length of the canonical sequence.
Location on the sequence: help GRARWGLAYTLLHNPTLQVF R KTALLGANGAQP 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                         GRARWGLAYTLLHNPTL------------QVFRKTALLGA--NGAQP------------------

Mouse                         SRARWGLAYTLLHNPSL------------QAFR

Rat                           SRARWGLAYTLLHNPSL------------QAFR

Bovine                        GRARWGLAYTLLHNPAL------------QAFR

Zebrafish                     ARAHWQLLYTLVNNPSLVGSRKHFQCQSSESFI
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 – 667 Receptor for retinol uptake STRA6
Topological domain 548 – 667 Cytoplasmic
Modified residue 643 – 643 Phosphotyrosine
Alternative sequence 145 – 667 AWKILGLFYYAALYYPLAACATAGHTAAHLLGSTLSWAHLGVQVWQRAECPQVPKIYKYYSLLASLPLLLGLGFLSLWYPVQLVRSFSRRTGAGSKGLQSSYSEEYLRNLLCRKKLGSSYHTSKHGFLSWARVCLRHCIYTPQPGFHLPLKLVLSATLTGTAIYQVALLLLVGVVPTIQKVRAGVTTDVSYLLAGFGIVLSEDKQEVVELVKHHLWALEVCYISALVLSCLLTFLVLMRSLVTHRTNLRALHRGAALDLSPLHRSPHPSRQAIFCWMSFSAYQTAFICLGLLVQQIIFFLGTTALAFLVLMPVLHGRNLLLFRSLESSWPFWLTLALAVILQNMAAHWVFLETHDGHPQLTNRRVLYAATFLLFPLNVLVGAMVATWRVLLSALYNAIHLGQMDLSLLPPRAATLDPGYYTYRNFLKIEVSQSHPAMTAFCSLLLQAQSLLPRTMAAPQDSLRPGEEDEGMQLLQTKDSMAKGARPGASRGRARWGLAYTLLHNPTLQVFRKTALLGANGAQP -> NLPKITELRLVRAWI. In isoform 2.
Mutagenesis 643 – 643 Y -> F. Loss of tyrosine phosphorylation.



Literature citations
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation.
Pasutto F.; Sticht H.; Hammersen G.; Gillessen-Kaesbach G.; FitzPatrick D.R.; Nuernberg G.; Brasch F.; Schirmer-Zimmermann H.; Tolmie J.L.; Chitayat D.; Houge G.; Fernandez-Martinez L.; Keating S.; Mortier G.; Hennekam R.C.M.; von der Wense A.; Slavotinek A.; Meinecke P.; Bitoun P.; Becker C.; Nuernberg P.; Reis A.; Rauch A.;
Am. J. Hum. Genet. 80:550-560(2007)
Cited for: VARIANTS MCOPS9 LEU-90; LEU-293; PRO-321; MET-644 AND CYS-655; TISSUE SPECIFICITY;
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.