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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P49736: Variant p.Arg44Cys

DNA replication licensing factor MCM2
Gene: MCM2
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Variant information Variant position: help 44 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 Arginine (R) to Cysteine (C) at position 44 (R44C, p.Arg44Cys). 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 large size and basic (R) to medium size and polar (C) 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 DFNA70; increases the apoptotic process; no effect on cell proliferation and cell cycle phase. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 44 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 904 The length of the canonical sequence.
Location on the sequence: help LTSSPGRSSRRTDALTSSPG R DLPPFEDESEGLLGTEGPLE 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                         LTSSPGRSSRRTD--ALTSSPGRDLPPFEDESEGLLGTEGPLE--------

Mouse                         LTSSPGRSSRRAD--ALTSSPGRDLPPFEDESEGLLGTEGP

Xenopus laevis                NIATSPRAGSRRD--ALTSSPGRDLPPFEDESEGMFGDGVV

Xenopus tropicalis            NIATSPRTGSRRD--ALTSSPGRDLPPFEDESEGMFGDEVP

Drosophila                    PPNTPSDAAERRDLRAAMTSPVGDFEPFENE-DEILGDQTV

Baker's yeast                 PPSSPQQHFRGGM--NPVSSPIGSPDMINPEGDDNEVDDVP

Fission yeast                 PFESE-NSSLGAT--PLSLPPSSPPPEFSDEAAEALVEEDI
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 2 – 904 DNA replication licensing factor MCM2
Region 1 – 80 Disordered
Region 2 – 257 Interaction with KAT7
Modified residue 25 – 25 Phosphothreonine
Modified residue 26 – 26 Phosphoserine
Modified residue 27 – 27 Phosphoserine
Modified residue 32 – 32 Phosphoserine
Modified residue 39 – 39 Phosphothreonine
Modified residue 40 – 40 Phosphoserine; by CDC7
Modified residue 41 – 41 Phosphoserine
Modified residue 53 – 53 Phosphoserine; by CDC7
Modified residue 59 – 59 Phosphothreonine
Mutagenesis 27 – 27 S -> A. Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-41 and A-139.
Mutagenesis 41 – 41 S -> A. Impairs ATPase activity of the MCM-2-7 complex and reduces phosphorylation by the CDC7-DBF4 complex; when associated with A-27 and A-139.



Literature citations
Whole exome sequencing identified MCM2 as a novel causative gene for autosomal dominant nonsyndromic deafness in a chinese family.
Gao J.; Wang Q.; Dong C.; Chen S.; Qi Y.; Liu Y.;
PLoS ONE 10:E0133522-E0133534(2015)
Cited for: INVOLVEMENT IN DFNA70; VARIANT DFNA70 CYS-44; CHARACTERIZATION OF VARIANT DFNA70 CYS-44; 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.