Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6P4Q7: Variant p.Leu324Pro

Metal transporter CNNM4
Gene: CNNM4
Feedback?
Variant information Variant position: help 324 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 Proline (P) at position 324 (L324P, p.Leu324Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 In JALIS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 775 The length of the canonical sequence.
Location on the sequence: help LLTKFFMLLTFPLSFPISKL L DFFLGQEIRTVYNREKLMEM 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                         LLTKFFMLLTFPLSFPISKLLDFFLGQEIRTVYNREKL-MEM

Mouse                         VLTKVFMLLTFPLSFPISKLLDFVLGQEIRTVYNREKL-ME

Rat                           VLTKIFMLLTFPLSFPISKLLDFVLGQEIRTVYNREKL-ME

Xenopus tropicalis            WLTRIFMLLTFPVAYPVSRLLDCALGQEIGTVYNREKL-LE

Caenorhabditis elegans        YFVIFTMCITSPISYPLAMLLNIILGKE--NADDSAPLDLD
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 – 775 Metal transporter CNNM4
Topological domain 317 – 775 Cytoplasmic
Domain 178 – 358 CNNM transmembrane
Alternative sequence 1 – 513 Missing. In isoform 2.



Literature citations
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta.
Polok B.; Escher P.; Ambresin A.; Chouery E.; Bolay S.; Meunier I.; Nan F.; Hamel C.; Munier F.L.; Thilo B.; Megarbane A.; Schorderet D.F.;
Am. J. Hum. Genet. 84:259-265(2009)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 1-467; VARIANTS JALIS GLN-236 AND PRO-324; FUNCTION; Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta.
Parry D.A.; Mighell A.J.; El-Sayed W.; Shore R.C.; Jalili I.K.; Dollfus H.; Bloch-Zupan A.; Carlos R.; Carr I.M.; Downey L.M.; Blain K.M.; Mansfield D.C.; Shahrabi M.; Heidari M.; Aref P.; Abbasi M.; Michaelides M.; Moore A.T.; Kirkham J.; Inglehearn C.F.;
Am. J. Hum. Genet. 84:266-273(2009)
Cited for: VARIANTS JALIS PRO-196; TYR-200 AND PRO-324; FUNCTION;
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.