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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O96007: Variant p.Ser140Phe

Molybdopterin synthase catalytic subunit
Gene: MOCS2
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Variant information Variant position: help 140 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 Serine (S) to Phenylalanine (F) at position 140 (S140F, p.Ser140Phe). 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 small size and polar (S) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In MOCODB1; severely impairs interaction with MOCS2A; severely impairs the activity of the molybdopterin synthase complex. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 140 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 188 The length of the canonical sequence.
Location on the sequence: help AVFHRLGLVPVSEASIIIAV S SAHRAASLEAVSYAIDTLKA 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                         AVFHRLGLVPVSEASIIIAVSSAHRAASLEAVSYAIDTLKA

Mouse                         AVFHRLGLVPVSEASTVIAVSSAHRAASLEAVSYAIDSLKA

Rat                           AVFHRLGLVPVSEASTVIAVSSAHRAASLEAVSYAIDSLKA

Bovine                        AVFHRLGLVPVTEASVIIAVSSAHRAASLEAVSYAIDALKA

Drosophila                    VIYHRLGTVPVCEASVVIAASSPHRSEALESVSFAIDQLKT

Slime mold                    GIVHRIGNVPVGESSILIVISSGHRKSSLEAVHYAIDTIKS
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 – 188 Molybdopterin synthase catalytic subunit
Binding site 159 – 159
Beta strand 132 – 143



Literature citations
Investigation of molybdenum cofactor deficiency due to MOCS2 deficiency in a newborn baby.
Edwards M.; Roeper J.; Allgood C.; Chin R.; Santamaria J.; Wong F.; Schwarz G.; Whitehall J.;
Meta Gene 3:43-49(2015)
Cited for: VARIANT MOCODB1 PHE-140; FUNCTION; CATALYTIC ACTIVITY; IDENTIFICATION IN THE MOLYBDOPTERIN SYNTHASE COMPLEX;
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.