Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O94953: Variant p.Arg222Trp

Lysine-specific demethylase 4B
Gene: KDM4B
Feedback?
Variant information Variant position: help 222 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 Tryptophan (W) at position 222 (R222W, p.Arg222Trp). 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 large size and aromatic (W) 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 MRD65. Any additional useful information about the variant.


Sequence information Variant position: help 222 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1096 The length of the canonical sequence.
Location on the sequence: help HFGEPKSWYAIPPEHGKRLE R LAIGFFPGSSQGCDAFLRHK 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                         HFGEPKSWYAIPPEHGKRLERLAIGFFPGSSQGCDAFLRHK

Mouse                         HFGEPKSWYAIPPEHGKRLERLAIGFFPGSSQGCDAFLRHK

Drosophila                    HFGAPKTWYVVPPECGRKLEKVANQYFPASYKNCNAYLRHK
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 – 1096 Lysine-specific demethylase 4B
Domain 146 – 309 JmjC
Binding site 207 – 207
Binding site 235 – 235
Binding site 241 – 241
Binding site 242 – 242
Helix 217 – 227



Literature citations
Heterozygous variants in KDM4B lead to global developmental delay and neuroanatomical defects.
Duncan A.R.; Vitobello A.; Collins S.C.; Vancollie V.E.; Lelliott C.J.; Rodan L.; Shi J.; Seman A.R.; Agolini E.; Novelli A.; Prontera P.; Guillen Sacoto M.J.; Santiago-Sim T.; Trimouille A.; Goizet C.; Nizon M.; Bruel A.L.; Philippe C.; Grant P.E.; Wojcik M.H.; Stoler J.; Genetti C.A.; van Dooren M.F.; Maas S.M.; Alders M.; Faivre L.; Sorlin A.; Yoon G.; Yalcin B.; Agrawal P.B.;
Am. J. Hum. Genet. 107:1170-1177(2020)
Cited for: INVOLVEMENT IN MRD65; VARIANTS MRD65 PRO-220; TRP-222; ARG-768 AND LEU-1095;
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.