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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O00139: Variant p.Ser317Asn

Kinesin-like protein KIF2A
Gene: KIF2A
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Variant information Variant position: help 317 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 Serine (S) to Asparagine (N) at position 317 (S317N, p.Ser317Asn). 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 small size and polar (S) to medium size and polar (N) 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 CDCBM3; results in abnormal cellular localization with predominant decoration of microtubules rather than diffuse punctiform cytoplasmic and nuclear distribution as observed for wild-type protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 317 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 706 The length of the canonical sequence.
Location on the sequence: help LVETIFERGMATCFAYGQTG S GKTHTMGGDFSGKNQDCSKG 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                         LVETIFERGMATCFAYGQTGSGKTHTMGGDFSGKNQDCSKG

Mouse                         LVETIFERGMATCFAYGQTGSGKTHTMGGDFSGKNQDCSKG

Rat                           LVETIFERGMATCFAYGQTGSGKTHTMGGDCSGKNQDCSKG

Bovine                        LVETIFERGMATCFAYGQTGSGKTHTMGGDFSGKNQDCSKG

Chicken                       LVETIFERGMATCFAYGQTGSGKTHTMGGDFSGKNQDCSKG

Xenopus laevis                LVETIFERGMATCFAYGQTGSGKTHTMGGDFSGKNQDCSKG
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 – 706 Kinesin-like protein KIF2A
Domain 223 – 553 Kinesin motor
Binding site 313 – 320



Literature citations
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K.; Lebrun N.; Broix L.; Tian G.; Saillour Y.; Boscheron C.; Parrini E.; Valence S.; Pierre B.S.; Oger M.; Lacombe D.; Genevieve D.; Fontana E.; Darra F.; Cances C.; Barth M.; Bonneau D.; Bernadina B.D.; N'guyen S.; Gitiaux C.; Parent P.; des Portes V.; Pedespan J.M.; Legrez V.; Castelnau-Ptakine L.; Nitschke P.; Hieu T.; Masson C.; Zelenika D.; Andrieux A.; Francis F.; Guerrini R.; Cowan N.J.; Bahi-Buisson N.; Chelly J.;
Nat. Genet. 45:639-647(2013)
Cited for: VARIANTS CDCBM3 ASN-317 AND ASP-321; CHARACTERIZATION OF VARIANTS CDCBM3 ASN-317 AND ASP-321;
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.