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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H078: Variant p.Lys404Thr

Mitochondrial disaggregase
Gene: CLPB
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Variant information Variant position: help 404 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 Lysine (K) to Threonine (T) at position 404 (K404T, p.Lys404Thr). 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 (K) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 MGCA7A; decreased ATP hydrolysis activity; decreased ATP-dependent protein disaggregase activity. Any additional useful information about the variant.


Sequence information Variant position: help 404 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 707 The length of the canonical sequence.
Location on the sequence: help GIGKTELAKQTAKYMHKDAK K GFIRLDMSEFQERHEVAKFI 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                         GIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFI

Mouse                         GIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFI

Rat                           GIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFI

Bovine                        GIGKTELAKQTAKYMHKDAKKGFIRLDMSEFQERHEVAKFI
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 37 – 707 Mitochondrial disaggregase
Chain 127 – 707 Mitochondrial disaggregase, cleaved form
Binding site 384 – 384
Binding site 385 – 385
Binding site 386 – 386
Binding site 387 – 387
Binding site 388 – 388
Mutagenesis 387 – 387 K -> A. Loss of ATP hydrolysis activity. Loss of ATP-dependent protein disaggregase activity.
Mutagenesis 417 – 417 R -> A. No effect on ATPase activity but shows decreased disaggregase activity.



Literature citations
Neutropenia and intellectual disability are hallmarks of biallelic and de novo CLPB deficiency.
Wortmann S.B.; Zietkiewicz S.; Guerrero-Castillo S.; Feichtinger R.G.; Wagner M.; Russell J.; Ellaway C.; Mroz D.; Wyszkowski H.; Weis D.; Hannibal I.; von Stuelpnagel C.; Cabrera-Orefice A.; Lichter-Konecki U.; Gaesser J.; Windreich R.; Myers K.C.; Lorsbach R.; Dale R.C.; Gersting S.; Prada C.E.; Christodoulou J.; Wolf N.I.; Venselaar H.; Mayr J.A.; Wevers R.A.;
Genet. Med. 23:1705-1714(2021)
Cited for: INVOLVEMENT IN MGCA7A; VARIANTS MGCA7A THR-404; LEU-427; ARG-560 AND TRP-561; CHARACTERIZATION OF VARIANTS MGCA7A THR-404; LEU-427 AND ARG-560;
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.