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UniProtKB/Swiss-Prot Q5T5A4: Variant p.Ile122Asn

Cilia- and flagella-associated protein 276
Gene: CFAP276
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Variant information Variant position: help 122 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 Isoleucine (I) to Asparagine (N) at position 122 (I122N, p.Ile122Asn). 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 (I) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 Probable disease-associated variant found in patients with a form of Charcot-Marie-Tooth disease leading to demyelinating form; does not affect subcellular location; increased protein expression; increased aggregation in vesicles; increased intracellular Ca(2+); decreased mitochondrial Ca(2+). Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 169 The length of the canonical sequence.
Location on the sequence: help DTYRTKIQFPGEFLTPPTPP I TFLANIRHWINPKKESIHSI 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                         DTYRTKIQFPGEFLTPPTPP-ITFLANIRHWINPKKESIHSI

Mouse                         DIQGTKIQFPGECFHAPSAP-ITSRTTIRHWINPKKESIHS

Bovine                        DTRRIKTQFPGEFLPAPQPPLITSRANIRHWINPKKESIHS

Zebrafish                     ADNGTK---KNKELEDSVCD--AENKGIKVWVDTQKASLYS

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 – 169 Cilia- and flagella-associated protein 276



Literature citations
Mutations in C1orf194, encoding a calcium regulator, cause dominant Charcot-Marie-Tooth disease.
Sun S.C.; Ma D.; Li M.Y.; Zhang R.X.; Huang C.; Huang H.J.; Xie Y.Z.; Wang Z.J.; Liu J.; Cai D.C.; Liu C.X.; Yang Q.; Bao F.X.; Gong X.L.; Li J.R.; Hui Z.; Wei X.F.; Zhong J.M.; Zhou W.J.; Shang X.; Zhang C.; Liu X.G.; Tang B.S.; Xiong F.; Xu X.M.;
Brain 142:2215-2229(2019)
Cited for: SUBCELLULAR LOCATION; VARIANTS ILE-28 AND ASN-122; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS ILE-28 AND ASN-122; FUNCTION; INVOLVEMENT IN CHAROT-MARIE-TOOTH DISEASE;
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.