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UniProtKB/Swiss-Prot Q9NZB8: Variant p.Cys84Phe

Molybdenum cofactor biosynthesis protein 1
Gene: MOCS1
Variant information

Variant position:  84
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Cysteine (C) to Phenylalanine (F) at position 84 (C84F, p.Cys84Phe).
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 medium size and polar (C) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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:  In MOCODA.
Any additional useful information about the variant.

Sequence information

Variant position:  84
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  636
The length of the canonical 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.







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.

Chain 1 – 636 Molybdenum cofactor biosynthesis protein 1
Domain 64 – 277 Radical SAM core
Region 1 – 383 Molybdenum cofactor biosynthesis protein A
Metal binding 80 – 80 Iron-sulfur (4Fe-4S) 1; 4Fe-4S-S-AdoMet
Metal binding 84 – 84 Iron-sulfur (4Fe-4S) 1; 4Fe-4S-S-AdoMet
Metal binding 87 – 87 Iron-sulfur (4Fe-4S) 1; 4Fe-4S-S-AdoMet
Binding site 73 – 73 GTP
Binding site 86 – 86 S-adenosyl-L-methionine
Modified residue 64 – 64 Phosphoserine
Alternative sequence 1 – 87 Missing. In isoform 4 and isoform 7.
Mutagenesis 80 – 80 C -> S. Impairs precursor Z synthesis.
Mutagenesis 84 – 84 C -> S. Impairs precursor Z synthesis.
Mutagenesis 87 – 87 C -> S. Impairs precursor Z synthesis.

Literature citations

Ten novel mutations in the molybdenum cofactor genes MOCS1 and MOCS2 and in vitro characterization of a MOCS2 mutation that abolishes the binding ability of molybdopterin synthase.
Leimkuehler S.; Charcosset M.; Latour P.; Dorche C.; Kleppe S.; Scaglia F.; Szymczak I.; Schupp P.; Hahnewald R.; Reiss J.;
Hum. Genet. 117:565-570(2005)

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.