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UniProtKB/Swiss-Prot Q9NYC9: Variant p.Lys1881Glu

Dynein axonemal heavy chain 9
Gene: DNAH9
Variant information

Variant position:  1881
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Lysine (K) to Glutamate (E) at position 1881 (K1881E, p.Lys1881Glu).
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:  Change from large size and basic (K) to medium size and acidic (E)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In CILD40; associated in cis with H-2965; no protein detected by Western blot when associated with H-2965; loss of localization to cilium axonema associated with H-2965.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1881
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  4486
The length of the canonical sequence.

Location on the sequence:   HLTMSGAPAGPAGTGKTETT  K DLGRALGILVYVFNCSEQMD
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.

Sequence annotation in neighborhood:  
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 – 4486 Dynein axonemal heavy chain 9
Region 1832 – 2053 AAA 1
Alternative sequence 1 – 3688 Missing. In isoform 3.


Literature citations

Mutations in outer dynein arm heavy chain DNAH9 cause motile cilia defects and situs inversus.
Fassad M.R.; Shoemark A.; Legendre M.; Hirst R.A.; Koll F.; le Borgne P.; Louis B.; Daudvohra F.; Patel M.P.; Thomas L.; Dixon M.; Burgoyne T.; Hayes J.; Nicholson A.G.; Cullup T.; Jenkins L.; Carr S.B.; Aurora P.; Lemullois M.; Aubusson-Fleury A.; Papon J.F.; O'Callaghan C.; Amselem S.; Hogg C.; Escudier E.; Tassin A.M.; Mitchison H.M.;
Am. J. Hum. Genet. 103:984-994(2018)
Cited for: FUNCTION; TISSUE SPECIFICITY; SUBCELLULAR LOCATION; INVOLVEMENT IN CILD40; VARIANTS CILD40 GLU-1881; HIS-2965; LEU-3398 AND ASN-4123; CHARACTERIZATION OF VARIANTS CILD40 GLU-1881; HIS-2965 AND ASN-4123;

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.