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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q86X45: Variant p.Asp146His

Dynein axonemal assembly factor 11
Gene: DNAAF11
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Variant information Variant position: help 146 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 Histidine (H) at position 146 (D146H, p.Asp146His). 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 medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 CILD19; no effect on interaction with ZMYND10; reduced expression in cytoplasm; decreased expression of inner and outer dynein proteins; mislocation of inner and outer dynein proteins. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 146 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 466 The length of the canonical sequence.
Location on the sequence: help ASFDHYREFVVATLPQLKWL D GKEIEPSERIKALQDYSVIE 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                         ASFDHYREFVVATLPQLKWLDGKEIEPSERIKALQDYSVIE

Mouse                         ADFDGYRQFVVVTLQQLKWLDGKEIERSERIQALQNYTSVE

Bovine                        ADFDGYRQFVVATLQQLKWLDGKEIERSERIQALQNLPVVE

Xenopus laevis                AEYEGYRQYVVATLPQLKWLDGKEIERSERIQALQDYPQVQ

Xenopus tropicalis            AEYEGYRQYVVATLPQLKWLDGKEIERSERIQAAQDYPQVQ

Zebrafish                     AEYQGYRQYVVATVPQLQSLDGKEISRAERIQALQELDAVR
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 – 466 Dynein axonemal assembly factor 11
Domain 123 – 161 LRRCT



Literature citations
Loss-of-function mutations in LRRC6, a gene essential for proper axonemal assembly of inner and outer dynein arms, cause primary ciliary dyskinesia.
Kott E.; Duquesnoy P.; Copin B.; Legendre M.; Dastot-Le Moal F.; Montantin G.; Jeanson L.; Tamalet A.; Papon J.F.; Siffroi J.P.; Rives N.; Mitchell V.; de Blic J.; Coste A.; Clement A.; Escalier D.; Toure A.; Escudier E.; Amselem S.;
Am. J. Hum. Genet. 91:958-964(2012)
Cited for: VARIANTS CILD19 PRO-74; HIS-146 AND 192-GLN--ILE-466 DEL; FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; ZMYND10 is mutated in primary ciliary dyskinesia and interacts with LRRC6.
Zariwala M.A.; Gee H.Y.; Kurkowiak M.; Al-Mutairi D.A.; Leigh M.W.; Hurd T.W.; Hjeij R.; Dell S.D.; Chaki M.; Dougherty G.W.; Adan M.; Spear P.C.; Esteve-Rudd J.; Loges N.T.; Rosenfeld M.; Diaz K.A.; Olbrich H.; Wolf W.E.; Sheridan E.; Batten T.F.; Halbritter J.; Porath J.D.; Kohl S.; Lovric S.; Hwang D.Y.; Pittman J.E.; Burns K.A.; Ferkol T.W.; Sagel S.D.; Olivier K.N.; Morgan L.C.; Werner C.; Raidt J.; Pennekamp P.; Sun Z.; Zhou W.; Airik R.; Natarajan S.; Allen S.J.; Amirav I.; Wieczorek D.; Landwehr K.; Nielsen K.; Schwerk N.; Sertic J.; Kohler G.; Washburn J.; Levy S.; Fan S.; Koerner-Rettberg C.; Amselem S.; Williams D.S.; Mitchell B.J.; Drummond I.A.; Otto E.A.; Omran H.; Knowles M.R.; Hildebrandt F.;
Am. J. Hum. Genet. 93:336-345(2013)
Cited for: INTERACTION WITH ZMYND10; INVOLVEMENT IN CILD19; VARIANTS CILD19 ARG-87 AND 188-GLN--ILE-466 DEL; CHARACTERIZATION OF VARIANTS CILD19 ARG-87; HIS-146 AND 188-GLN--ILE-466 DEL; LRRC6 mutation causes primary ciliary dyskinesia with dynein arm defects.
Horani A.; Ferkol T.W.; Shoseyov D.; Wasserman M.G.; Oren Y.S.; Kerem B.; Amirav I.; Cohen-Cymberknoh M.; Dutcher S.K.; Brody S.L.; Elpeleg O.; Kerem E.;
PLoS ONE 8:e59436-e59436(2013)
Cited for: VARIANT CILD19 HIS-146; CHARACTERIZATION OF VARIANT CILD19 HIS-146; SUBCELLULAR LOCATION; FUNCTION; 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.