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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6X9: Variant p.Glu757Gly

ATPase MORC2
Gene: MORC2
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Variant information Variant position: help 757 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Glutamate (E) to Glycine (G) at position 757 (E757G, p.Glu757Gly). 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 medium size and acidic (E) to glycine (G) 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 757 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1032 The length of the canonical sequence.
Location on the sequence: help KRSVAVSDEEEVEEEAERRK E RCKRGRFVVKEEKKDSNELS 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.
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 – 1032 ATPase MORC2
Region 577 – 793 Disordered
Coiled coil 741 – 761
Compositional bias 739 – 793 Basic and acidic residues
Modified residue 739 – 739 Phosphoserine; by PAK1
Modified residue 743 – 743 Phosphoserine
Modified residue 777 – 777 Phosphoserine
Cross 767 – 767 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)
Mutagenesis 739 – 739 S -> A. Abolishes phosphorylation by PAK1. Not recruited on damaged chromatin. Loss of ATPase activity. Prevents chromatin remodeling. Upon irradiation, increases levels of damaged DNA.
Mutagenesis 773 – 773 S -> A. No effect on phosphorylation by PAK1.



Literature citations
MORC2 mutations cause axonal Charcot-Marie-Tooth disease with pyramidal signs.
Albulym O.M.; Kennerson M.L.; Harms M.B.; Drew A.P.; Siddell A.H.; Auer-Grumbach M.; Pestronk A.; Connolly A.; Baloh R.H.; Zuchner S.; Reddel S.W.; Nicholson G.A.;
Ann. Neurol. 79:419-427(2016)
Cited for: VARIANTS CMT2Z GLU-96; GLY-236; TRP-252 AND ARG-444; VARIANTS CYS-248; HIS-283; HIS-466; CYS-585 AND GLY-757;
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.