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Analysis of p.Ser492Phe variant, CFTR gene, CF Transmembrane conductance Regulator protein (1480 residues)


Data provided and calculated by CYSMA must be considered as predictions.
They are meant for educational purposes only and are provided with NO WARRANTY with respect to their biological reliability.



  • Allele frequency:

    variant S492F gnomAD (123,136 exomes): 7.96e-06


  • Ortholog conservation: Help


    Number of sequences AAPI* AAPIR** Number of divergencies Number of mutant F492 Number of gaps Conservation of S492 Conservation - gap
    50 80.72% 89.43% 10
    show divergencies
    0
    details
    0
    details
    80.00% (40 / 50) 80.00% (40 / 50)


    The wild-type residue S492 is highly conserved among the CFTR orthologs: 80% (40 / 50 CFTR orthologs)
    The variant S492F has never been found among the CFTR orthologs

    *AAPI: Alignment Average Percentage Identity
    **AAPIR: Alignment Average Percentage Identity of the Region (20 residues surrounding position 492). AAPIR appears in green if it is more than 10% compared to AAPI, in red if less than 10%.
    Click here for more details on the alignment.


    CYSMA's visualizing modules for Ortholog conservation:





    ⬇ Download the region alignment (50 residues, Fasta format)
    ⬇ Download the CFTR phylogenic tree



    Display methods


  • Domain conservation: Help

    The domain NBD1 of CF Transmembrane conductance Regulator has been shown to interact with:


    The residue p.Ser492 belongs to the domain NBD1.

    423
    649


    NBD1: is the nucleotide binding domain 1, also called the ATP-binding cassette (ABC). It contains the Walker A (P-loop) and Walker B motifs, the C-motif (also known as the signature sequence), the A-, D-, Q-, and H-loops.








    NBD1 of CF Transmembrane conductance Regulator domain alignment including p.Ser492 residue.



    Number of sequences AAPID***
    (from aa 423 to aa 649)
    AAPIR! Number of divergencies Number of mutant Number of gaps Conservation of S492 Conservation - gap
    3982 26.61% 24.34% 3691
    show divergencies
    2064 9 7.08% (282 / 3982) 7.10% (282 / 3973)



    ***AAPID: Alignment Average Percentage Identity of the Domain (positions are indicated).
    !AAPIR: Alignment Average Percentage Identity of the Region (20 residues surrounding position 492). AAPIR appears in green if it is more than 10% compared to AAPID, in red if less than 10%.

    The wild-type residue S492 belongs to the NBD1 domain and is conserved at 7.08% among the NBD1 homologs (282 / 3982 NBD1 homologs)
    The variant S492F has been found among the NBD1 homologs with a very high frequency: 51.83% (2064 / 3982 NBD1 homologs)

    Divergencies show the amino acids which have been selected in the evolution. Residues present in more than 10% of the sequences are highlighted in blue.
    Please note that CYSMA does not consider splicing alterations.
    Refer to the Help page for more details.



    CYSMA's visualizing modules for NBD1 domain conservation:





    Display methods


  • Refer to the Help page for more details.


  • Secondary structure analysis: Help


    Residue p.Ser492 is predicted to belong to a β strand. Probability is 0.548.

    Direct environment is as follow:

    ISFCS492QFSW
    EEEEECCCC


    Observed frequencies in β strands:
    S: 0.95
    F: 1.35

    Mutant residue is more observed in this type of structure.

    Display methods











  • 3D analysis: Help