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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NEP3: Variant p.Leu175Arg

Dynein axonemal assembly factor 1
Gene: DNAAF1
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Variant information Variant position: help 175 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 Leucine (L) to Arginine (R) at position 175 (L175R, p.Leu175Arg). 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 hydrophobic (L) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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 CILD13. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 175 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 725 The length of the canonical sequence.
Location on the sequence: help CLFLQMNLLRKIENLEPLQK L DALNLSNNYIKTIENLSCLP 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                         CLFLQMNLLRKIENLEPLQKLDALNLSNNYIKTIENL--SCLP

Mouse                         CLFLQVNLLHKIENLEPLQKLDALNLSNNYIKTIENL--SC

Rat                           CLFLQVNLLHKIENLEPLQKLDALNLSNNYIKTIENL--SC

Bovine                        CLFLQVNLLHKIENLEPLQKLDALNISNNYIKTIENL--SC

Zebrafish                     CLFLHQNLIHTLENLEPLSKLCTLNVSNNYIKVIENI--SS

Drosophila                    CLFLQNNLITKIENLDPCRELDTLNLSSNHIRKIQNIGTNV
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 – 725 Dynein axonemal assembly factor 1
Repeat 174 – 195 LRR 4
Alternative sequence 1 – 252 Missing. In isoform 2.



Literature citations
Loss-of-function mutations in the human ortholog of Chlamydomonas reinhardtii ODA7 disrupt dynein arm assembly and cause primary ciliary dyskinesia.
Duquesnoy P.; Escudier E.; Vincensini L.; Freshour J.; Bridoux A.M.; Coste A.; Deschildre A.; de Blic J.; Legendre M.; Montantin G.; Tenreiro H.; Vojtek A.M.; Loussert C.; Clement A.; Escalier D.; Bastin P.; Mitchell D.R.; Amselem S.;
Am. J. Hum. Genet. 85:890-896(2009)
Cited for: FUNCTION; TISSUE SPECIFICITY; VARIANTS CILD13 42-GLU--LYS-117 DEL AND ARG-175;
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.