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UniProtKB/Swiss-Prot Q5T5A4: Variant p.Lys28Ile

Protein CFAP276
Gene: CFAP276
Variant information

Variant position:  28
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 Lysine (K) to Isoleucine (I) at position 28 (K28I, p.Lys28Ile).
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 hydrophobic (I)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  Found in patients with an intermediate form of Charcot-Marie-Tooth disease; does not affect subcellular location; reduced protein expression; increased intracellular Ca(2+).
Any additional useful information about the variant.

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



Sequence information

Variant position:  28
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  169
The length of the canonical sequence.

Location on the sequence:   FQQPTLDNDDSYLGELRASK  K LPYKNPTHLAQQQEPWSRLN
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         FQQPTLDNDDSYLGELRASKKLPYKNPTHLAQQQEPWSRLN

Mouse                         FSNPALRDEDKHLGNLWASKKSLYKNPAHLAQQQDPWSRLS

Zebrafish                     FPFPRYENDFTLTGR-KEIQKLSDDKPTHLAQNDEPWRRLH

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 – 169 Protein CFAP276
Region 26 – 45 Disordered


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.