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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9BVA0: Variant p.Ser535Leu

Katanin p80 WD40 repeat-containing subunit B1
Gene: KATNB1
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Variant information Variant position: help 535 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 Leucine (L) at position 535 (S535L, p.Ser535Leu). 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 hydrophobic (L) 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 LIS6; causes reduced interaction with KATNA1 and NDEL1. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 535 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 655 The length of the canonical sequence.
Location on the sequence: help VWTMGDIKTSVDSAVAINDL S VVVDLLNIVNQKASLWKLDL 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                         VWTMGDIKTSVDSAVAINDLSVVVDLLNIVNQKASLWKLDL

Mouse                         VWTTGDIKTSVDSAVAINDLSVVVDLLNIVNQKASLWKLDL

Chicken                       VWSTSDMKNSVDAAVATNDLSVVVDLLNIVNQTASLWKLDL

Xenopus laevis                VWSSGDIKTSIDSAVAINDLSVVVDLLNIINQKASLWKLDL

Xenopus tropicalis            VWSSGDIKTSIDSAVAINDLSVVVDLLNIINQKASLWKLDL

Zebrafish                     VWASGDVKTSLDSAVSMNDLSIVVDVLNIINLKPSLWKLDL
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 – 655 Katanin p80 WD40 repeat-containing subunit B1
Region 433 – 655 Interaction with KATNA1 and NDEL1



Literature citations
Mutations in KATNB1 cause complex cerebral malformations by disrupting asymmetrically dividing neural progenitors.
Mishra-Gorur K.; Caglayan A.O.; Schaffer A.E.; Chabu C.; Henegariu O.; Vonhoff F.; Akguemues G.T.; Nishimura S.; Han W.; Tu S.; Baran B.; Guemues H.; Dilber C.; Zaki M.S.; Hossni H.A.; Riviere J.B.; Kayserili H.; Spencer E.G.; Rosti R.O.; Schroth J.; Per H.; Caglar C.; Caglar C.; Doelen D.; Baranoski J.F.; Kumandas S.; Minja F.J.; Erson-Omay E.Z.; Mane S.M.; Lifton R.P.; Xu T.; Keshishian H.; Dobyns W.B.; Chi N.C.; Sestan N.; Louvi A.; Bilguevar K.; Yasuno K.; Gleeson J.G.; Guenel M.;
Neuron 84:1226-1239(2014)
Cited for: INVOLVEMENT IN LIS6; VARIANTS LIS6 LEU-535 AND ARG-540; CHARACTERIZATION OF VARIANT LIS6 LEU-535;
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.