Variant position: 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 775 The length of the canonical sequence.
Location on the sequence:
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 LLTKFFMLLTFPLSFPISKL LDFFLGQEIRTVYNREKL-MEM
Mouse VLTKVFMLLTFPLSFPISKL LDFVLGQEIRTVYNREKL-ME
Rat VLTKIFMLLTFPLSFPISKL LDFVLGQEIRTVYNREKL-ME
Xenopus tropicalis WLTRIFMLLTFPVAYPVSRL LDCALGQEIGTVYNREKL-LE
Caenorhabditis elegans YFVIFTMCITSPISYPLAML LNIILGKE--NADDSAPLDLD
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.
Type Positions Description
1 – 775 Metal transporter CNNM4
317 – 775 Cytoplasmic
178 – 358 CNNM transmembrane
1 – 513 Missing. In isoform 2.
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;
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.