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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H6U6: Variant p.Pro567Leu

BCAS3 microtubule associated cell migration factor
Gene: BCAS3
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Variant information Variant position: help 567 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 Leucine (L) at position 567 (P567L, p.Pro567Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 HEMARS; no protein detected in patient cells that also carry R-577, suggesting the mutant is unstable. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 567 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 928 The length of the canonical sequence.
Location on the sequence: help PYLFGAGCFSIKAPCKVKPP P QISPSKSMGGEFCVAAIFGT 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                         PYLFGAGC--------FSIKAPCKVKPPPQISPSKSMGGEFCVAAIFGT

Mouse                         PYLFGAGC--------FSIKAPCKVKSPPQISPSKSMGGEF

Drosophila                    GGVMGSGVSAGGHGVGVGVGSNSQRQRQRLSSLSDDSGKPL
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 – 928 BCAS3 microtubule associated cell migration factor



Literature citations
Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.
Hengel H.; Hannan S.B.; Dyack S.; MacKay S.B.; Schatz U.; Fleger M.; Kurringer A.; Balousha G.; Ghanim Z.; Alkuraya F.S.; Alzaidan H.; Alsaif H.S.; Mitani T.; Bozdogan S.; Pehlivan D.; Lupski J.R.; Gleeson J.J.; Dehghani M.; Mehrjardi M.Y.V.; Sherr E.H.; Parks K.C.; Argilli E.; Begtrup A.; Galehdari H.; Balousha O.; Shariati G.; Mazaheri N.; Malamiri R.A.; Pagnamenta A.T.; Kingston H.; Banka S.; Jackson A.; Osmond M.; Riess A.; Haack T.B.; Naegele T.; Schuster S.; Hauser S.; Admard J.; Casadei N.; Velic A.; Macek B.; Ossowski S.; Houlden H.; Maroofian R.; Schoels L.;
Am. J. Hum. Genet. 108:1069-1082(2021)
Cited for: VARIANTS HEMARS 25-GLN--PRO-928 DEL; 113-GLN--PRO-928 DEL; 192-CYS--PRO-928 DEL; 242-TYR--PRO-928 DEL; 486-SER--PRO-928 DEL; LEU-567; ARG-577 AND 743-GLN--PRO-928 DEL; CHARACTERIZATION OF VARIANTS HEMARS LEU-567 AND ARG-577; INVOLVEMENT IN HEMARS;
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.