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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q02241: Variant p.Pro916Arg

Kinesin-like protein KIF23
Gene: KIF23
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Variant information Variant position: help 916 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 Proline (P) to Arginine (R) at position 916 (P916R, p.Pro916Arg). 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 hydrophobic (P) to large size and basic (R) 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 CDAN3A; results in loss of function; does not rescue defective cytokinesis when expressed in KIF3-deficient cells. Any additional useful information about the variant.


Sequence information Variant position: help 916 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 960 The length of the canonical sequence.
Location on the sequence: help ETLKQESPNGSRKRRSSTVA P AQPDGAESEWTDVETRCSVA 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                         ETLKQESPNGSRKRRSSTVAPAQPDGAESEWTDVETRCSVA

Mouse                         ETLKQELPTGSRKRRSSTLAPAQPDGTESEWTDVETRCSVA
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 – 960 Kinesin-like protein KIF23
Region 898 – 928 Disordered
Modified residue 902 – 902 Phosphoserine
Modified residue 911 – 911 Phosphoserine
Modified residue 927 – 927 Phosphothreonine
Cross 899 – 899 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO2)



Literature citations
Congenital dyserythropoietic anemia type III (CDA III) is caused by a mutation in kinesin family member, KIF23.
Liljeholm M.; Irvine A.F.; Vikberg A.L.; Norberg A.; Month S.; Sandstroem H.; Wahlin A.; Mishima M.; Golovleva I.;
Blood 121:4791-4799(2013)
Cited for: VARIANT CDAN3A ARG-916; CHARACTERIZATION OF VARIANT CDAN3A ARG-916; INVOLVEMENT IN CDAN3A; TISSUE SPECIFICITY; 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.