CYSMA
  
CHUVLMUM




Analysis of p.Glu1401Gly 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:

    The variant has not been reported in gnomAD


  • Ortholog conservation: Help


    Number of sequences AAPI* AAPIR** Number of divergencies Number of mutant G1401 Number of gaps Conservation of E1401 Conservation - gap
    50 80.72% 81.49% 1
    show divergencies
    0
    details
    0
    details
    98.00% (49 / 50) 98.00% (49 / 50)


    The wild-type residue E1401 is highly conserved among the CFTR orthologs: 98% (49 / 50 CFTR orthologs)
    The variant E1401G 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 1401). 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 NBD2 of CF Transmembrane conductance Regulator has been shown to interact with:


    The residue p.Glu1401 belongs to the domain NBD2.

    1210
    1443


    NBD2: is the nucleotide binding domain 2, 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.








    NBD2 of CF Transmembrane conductance Regulator domain alignment including p.Glu1401 residue.



    Number of sequences AAPID***
    (from aa 1210 to aa 1443)
    AAPIR! Number of divergencies Number of mutant Number of gaps Conservation of E1401 Conservation - gap
    715 24.58% 29.81% 639
    show divergencies
    0 0 10.63% (76 / 715) 10.63% (76 / 715)



    ***AAPID: Alignment Average Percentage Identity of the Domain (positions are indicated).
    !AAPIR: Alignment Average Percentage Identity of the Region (20 residues surrounding position 1401). AAPIR appears in green if it is more than 10% compared to AAPID, in red if less than 10%.

    The wild-type residue E1401 belongs to the NBD2 domain and is conserved at 10.63% among the NBD2 homologs (76 / 715 NBD2 homologs)
    The variant E1401G has never been found among the NBD2 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 NBD2 domain conservation:





    Display methods


  • Refer to the Help page for more details.


  • Secondary structure analysis: Help


    Residue p.Glu1401 is predicted to belong to a β strand. Probability is 0.385.

    Direct environment is as follow:

    VILCE1401HRIE
    EEEEECCCH


    Observed frequencies in β strands:
    E: 0.71
    G: 0.78

    The two residues are found equivalent in this type of structure.

    Display methods











  • 3D analysis: Help