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UniProtKB/Swiss-Prot Q9BVA0: Variant p.Leu540Arg

Katanin p80 WD40 repeat-containing subunit B1
Gene: KATNB1
Variant information

Variant position:  540
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Arginine (R) at position 540 (L540R, p.Leu540Arg).
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:  Change from medium size and hydrophobic (L) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Lissencephaly 6, with microcephaly (LIS6) [MIM:616212]: A form of lissencephaly, a disorder of cortical development characterized by agyria or pachygyria and disorganization of the clear neuronal lamination of normal six-layered cortex. LIS6 features include hypoplasia of the corpus callosum, severe microcephaly and developmental delay. {ECO:0000269|PubMed:25521378, ECO:0000269|PubMed:25521379}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In LIS6.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  540
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  655
The length of the canonical sequence.

Location on the sequence:   DIKTSVDSAVAINDLSVVVD  L LNIVNQKASLWKLDLCTTVL
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         DIKTSVDSAVAINDLSVVVDLLNIVNQKASLWKLDLCTTVL

Mouse                         DIKTSVDSAVAINDLSVVVDLLNIVNQKASLWKLDLCTTVL

Chicken                       DMKNSVDAAVATNDLSVVVDLLNIVNQTASLWKLDLCTVVL

Xenopus laevis                DIKTSIDSAVAINDLSVVVDLLNIINQKASLWKLDLCMTVL

Xenopus tropicalis            DIKTSIDSAVAINDLSVVVDLLNIINQKASLWKLDLCLTVL

Zebrafish                     DVKTSLDSAVSMNDLSIVVDVLNIINLKPSLWKLDLCTSIL

Sequence annotation in neighborhood:  
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.