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UniProtKB/Swiss-Prot Q96DT5: Variant p.Ser3758Pro

Dynein axonemal heavy chain 11
Gene: DNAH11
Variant information

Variant position:  3758
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Serine (S) to Proline (P) at position 3758 (S3758P, p.Ser3758Pro).
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 small size and polar (S) to medium size and hydrophobic (P)
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

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



Sequence information

Variant position:  3758
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  4516
The length of the canonical sequence.

Location on the sequence:   VLFHRAIEQADKVEDMQGRI  S ILMESITHAVFLYTSQALFE
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 – 4516 Dynein axonemal heavy chain 11


Literature citations

Mutations in the DNAH11 (axonemal heavy chain dynein type 11) gene cause one form of situs inversus totalis and most likely primary ciliary dyskinesia.
Bartoloni L.; Blouin J.-L.; Pan Y.; Gehrig C.; Maiti A.K.; Scamuffa N.; Rossier C.; Jorissen M.; Armengot M.; Meeks M.; Mitchison H.M.; Chung E.M.K.; Delozier-Blanchet C.D.; Craigen W.J.; Antonarakis S.E.;
Proc. Natl. Acad. Sci. U.S.A. 99:10282-10286(2002)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; INVOLVEMENT IN CILD7; VARIANT CILD7 GLN-2997; VARIANTS LEU-34; ARG-639; CYS-654; ALA-1023; ALA-1038; GLY-1635; THR-3467; PRO-3758; VAL-4165 AND ILE-4170;

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.