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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NQM4: Variant p.Asp133Tyr

Dynein axonemal assembly factor 6
Gene: DNAAF6
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Variant information Variant position: help 133 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 Aspartate (D) to Tyrosine (Y) at position 133 (D133Y, p.Asp133Tyr). 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 medium size and acidic (D) to large size and aromatic (Y) 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 CILD36; no effect on expression at protein level; almost complete loss of outer dynein arms and inner dynein arms in motor cilia; immotile cilia; abolishes interaction with DNAI2. Any additional useful information about the variant.


Sequence information Variant position: help 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 214 The length of the canonical sequence.
Location on the sequence: help EIIFRQQVGTEDIFLGLSKK D SSTGCCSELVAKIKLPNTNP 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                         EIIFRQQVGTEDIFLGLSKKDSSTGCCSELVAKIKLPNTNP

Mouse                         EIVFQQTVGTEDVYLGLTRKDPSTACCQELVVKIKLPNTNP
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 – 214 Dynein axonemal assembly factor 6



Literature citations
X-linked primary ciliary dyskinesia due to mutations in the cytoplasmic axonemal dynein assembly factor PIH1D3.
Olcese C.; Patel M.P.; Shoemark A.; Kiviluoto S.; Legendre M.; Williams H.J.; Vaughan C.K.; Hayward J.; Goldenberg A.; Emes R.D.; Munye M.M.; Dyer L.; Cahill T.; Bevillard J.; Gehrig C.; Guipponi M.; Chantot S.; Duquesnoy P.; Thomas L.; Jeanson L.; Copin B.; Tamalet A.; Thauvin-Robinet C.; Papon J.F.; Garin A.; Pin I.; Vera G.; Aurora P.; Fassad M.R.; Jenkins L.; Boustred C.; Cullup T.; Dixon M.; Onoufriadis A.; Bush A.; Chung E.M.; Antonarakis S.E.; Loebinger M.R.; Wilson R.; Armengot M.; Escudier E.; Hogg C.; Amselem S.; Sun Z.; Bartoloni L.; Blouin J.L.; Mitchison H.M.;
Nat. Commun. 8:14279-14279(2017)
Cited for: INVOLVEMENT IN CILD36; VARIANTS CILD36 43-GLU--PHE-214 DEL; 89-TRP--PHE-214 DEL; TYR-133 AND 171-GLN--PHE-214 DEL; CHARACTERIZATION OF VARIANTS CILD36 43-GLU--PHE-214 DEL; 89-TRP--PHE-214 DEL; TYR-133 AND 171-GLN--PHE-214; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INTERACTION WITH DNAI2; FUNCTION;
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.