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UniProtKB/Swiss-Prot Q96MT3: Variant p.Arg104Gln

Prickle-like protein 1
Gene: PRICKLE1
Variant information

Variant position:  104
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Arginine (R) to Glutamine (Q) at position 104 (R104Q, p.Arg104Gln).
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 large size and basic (R) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In EPM1B; affects interaction with REST.
Any additional useful information about the variant.

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



Sequence information

Variant position:  104
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  831
The length of the canonical sequence.

Location on the sequence:   RYCQSLSEEEKKELQVFSAQ  R KKEALGRGTIKLLSRAVMHA
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                         RYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRAVMHA

Mouse                         RYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRAVMHA

Rat                           RYCQSLSEEEKKELQVFSAQRKKEALGRGTIKLLSRAMMHA

Xenopus tropicalis            RYCQSLSEEEKKELQMFSAQRKKEALGRGNIKMLSRAVMHA

Drosophila                    RYCHSLTDEERKELRLFSTQRKRDALGRGNVRQLMSA---R

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 – 828 Prickle-like protein 1
Domain 14 – 122 PET


Literature citations

A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome.
Bassuk A.G.; Wallace R.H.; Buhr A.; Buller A.R.; Afawi Z.; Shimojo M.; Miyata S.; Chen S.; Gonzalez-Alegre P.; Griesbach H.L.; Wu S.; Nashelsky M.; Vladar E.K.; Antic D.; Ferguson P.J.; Cirak S.; Voit T.; Scott M.P.; Axelrod J.D.; Gurnett C.; Daoud A.S.; Kivity S.; Neufeld M.Y.; Mazarib A.; Straussberg R.; Walid S.; Korczyn A.D.; Slusarski D.C.; Berkovic S.F.; El-Shanti H.I.;
Am. J. Hum. Genet. 83:572-581(2008)
Cited for: TISSUE SPECIFICITY; VARIANT EPM1B GLN-104; CHARACTERIZATION OF VARIANT EPM1B GLN-104;

Mutations in prickle orthologs cause seizures in flies, mice, and humans.
Tao H.; Manak J.R.; Sowers L.; Mei X.; Kiyonari H.; Abe T.; Dahdaleh N.S.; Yang T.; Wu S.; Chen S.; Fox M.H.; Gurnett C.; Montine T.; Bird T.; Shaffer L.G.; Rosenfeld J.A.; McConnell J.; Madan-Khetarpal S.; Berry-Kravis E.; Griesbach H.; Saneto R.P.; Scott M.P.; Antic D.; Reed J.; Boland R.; Ehaideb S.N.; El-Shanti H.; Mahajan V.B.; Ferguson P.J.; Axelrod J.D.; Lehesjoki A.E.; Fritzsch B.; Slusarski D.C.; Wemmie J.; Ueno N.; Bassuk A.G.;
Am. J. Hum. Genet. 88:138-149(2011)
Cited for: VARIANTS EPM1B GLN-104; HIS-144 AND HIS-472;

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.