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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96LB3: Variant p.Gln179Glu

Intraflagellar transport protein 74 homolog
Gene: IFT74
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Variant information Variant position: help 179 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 Glutamine (Q) to Glutamate (E) at position 179 (Q179E, p.Gln179Glu). 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 polar (Q) to medium size and acidic (E) 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 JBTS40; partial loss of function; contrary to wild-type, only partially rescues the phenotype of IFT74 knockdown zebrafish; does not affect interaction with IFT81 and IFT27; does not affect protein level. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 179 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 600 The length of the canonical sequence.
Location on the sequence: help KLNTNTEMEEVMNDYNMLKA Q NDRETQSLDVIFTERQAKEK 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                         KLNTNTEMEEVMNDYNMLKAQNDRETQSLDVIFTERQAKEK

Mouse                         KLNTNTEMEEVMSDYNMLKAQNDRETQSMDVIFTERQAKEK
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 – 600 Intraflagellar transport protein 74 homolog
Coiled coil 98 – 482



Literature citations
Case Report: Second Report of Joubert Syndrome Caused by Biallelic Variants in IFT74.
Zhongling K.; Guoming L.; Yanhui C.; Xiaoru C.;
Front. Genet. 12:738157-738157(2021)
Cited for: INVOLVEMENT IN JBTS40; VARIANTS JBTS40 GLU-179 AND 285-GLU--ASN-600 DEL;
Disrupted intraflagellar transport due to IFT74 variants causes Joubert syndrome.
Luo M.; Lin Z.; Zhu T.; Jin M.; Meng D.; He R.; Cao Z.; Shen Y.; Lu C.; Cai R.; Zhao Y.; Wang X.; Li H.; Wu S.; Zou X.; Luo G.; Cao L.; Huang M.; Jiao H.; Gao H.; Sui R.; Zhao C.; Ma X.; Cao M.;
Genet. Med. 23:1041-1049(2021)
Cited for: INVOLVEMENT IN JBTS40; VARIANTS JBTS40 29-ARG--ASN-600 DEL AND GLU-179; CHARACTERIZATION OF VARIANT JBTS40 GLU-179; INTERACTION WITH IFT27 AND IFT81;
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.