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UniProtKB/Swiss-Prot Q13492: Variant p.Gln579Glu

Phosphatidylinositol-binding clathrin assembly protein
Gene: PICALM
Variant information

Variant position:  579
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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:  From Glutamine (Q) to Glutamate (E) at position 579 (Q579E, p.Gln579Glu).
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 polar (Q) to medium size and acidic (E)
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

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



Sequence information

Variant position:  579
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  652
The length of the canonical sequence.

Location on the sequence:   KNDVNWSQPGEKKLTGGSNW  Q PKVAPTTAWNAATMAPPVMA
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                         KNDVNWSQPGEKKLTGGSNWQPKVAPTTAWNAATM--------APPVMA

Mouse                         KNDVSWSQPGEKKLTGGSNWQPKVAPTTAWSAATMNGMHFP

Rat                           KNDVSCSQPGEKKLTGGSNWQPKVAPTTAWSAATM------

Caenorhabditis elegans        SAPQPMYTAPMGMYQQPFGAQP------MWNPAMA------

Drosophila                    K------------YDGGAGSSP-----FDWG----------

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 2 – 652 Phosphatidylinositol-binding clathrin assembly protein
Region 559 – 580 Disordered
Alternative sequence 593 – 593 M -> MNGMHFPQY. In isoform 3.


Literature citations

The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family.
Dreyling M.H.; Martinez-Climent J.A.; Zheng M.; Mao J.; Rowley J.D.; Bohlander S.K.;
Proc. Natl. Acad. Sci. U.S.A. 93:4804-4809(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); CHROMOSOMAL TRANSLOCATION; TISSUE SPECIFICITY; VARIANTS CYS-578 AND GLU-579;

Alternative splicing in wild-type AF10 and CALM cDNAs and in AF10-CALM and CALM-AF10 fusion cDNAs produced by the t(10;11)(p13-14;q14-q21) suggests a potential role for truncated AF10 polypeptides.
Silliman C.C.; McGavran L.; Wei Q.; Miller L.A.; Li S.; Hunger S.P.;
Leukemia 12:1404-1410(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 575-652 (ISOFORMS 1 AND 2); VARIANTS CYS-578 AND GLU-579;

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.