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UniProtKB/Swiss-Prot P22466: Variant p.Ala39Glu

Galanin peptides
Gene: GAL
Chromosomal location: 11q13.1
Variant information

Variant position:  39
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 Alanine (A) to Glutamate (E) at position 39 (A39E, p.Ala39Glu).
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 small size and hydrophobic (A) to medium size and acidic (E)
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

Involvement in disease:  Epilepsy, familial temporal lobe, 8 (ETL8) [MIM:616461]: A focal form of epilepsy characterized by recurrent seizures that arise from foci within the temporal lobe. Seizures are usually accompanied by sensory symptoms, most often auditory in nature. {ECO:0000269|PubMed:25691535}. 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 ETL8; decreased affinity for GALR2; but no effect on affinity for GALR1 and GALR3; decreased activity in GALR2-mediated signaling; dominant-negative that inhibits GALR1-mediated signaling.
Any additional useful information about the variant.

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



Sequence information

Variant position:  39
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  123
The length of the canonical sequence.

Location on the sequence:   SASAGLWSPAKEKRGWTLNS  A GYLLGPHAVGNHRSFSDKNG
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                         SASAGLWSPAKEKRGWTLNSAGYLLGPHAVGNHRSFSDKNG

Mouse                         SATLGLGMPAKEKRGWTLNSAGYLLGPHAIDNHRSFSDKHG

Rat                           SATLGLGMPTKEKRGWTLNSAGYLLGPHAIDNHRSFSDKHG

Pig                           SATLGLGSPVKEKRGWTLNSAGYLLGPHAIDNHRSFHDKYG

Bovine                        SATLGLGSPVKEKRGWTLNSAGYLLGPHALDSHRSFQDKHG

Sheep                         --------------GWTLNSAGYLLGPHAIDNHRSFHDKHG

Chicken                       --------------GWTLNSAGYLLGPHAVDNHRSFNDKHG

Zebrafish                     TETLGMVIAAKEKRGWTLNSAGYLLGPHAIDSHRSLSDKHG

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
Peptide 33 – 62 Galanin


Literature citations

Galanin pathogenic mutations in temporal lobe epilepsy.
Guipponi M.; Chentouf A.; Webling K.E.; Freimann K.; Crespel A.; Nobile C.; Lemke J.R.; Hansen J.; Dorn T.; Lesca G.; Ryvlin P.; Hirsch E.; Rudolf G.; Rosenberg D.S.; Weber Y.; Becker F.; Helbig I.; Muhle H.; Salzmann A.; Chaouch M.; Oubaiche M.L.; Ziglio S.; Gehrig C.; Santoni F.; Pizzato M.; Langel U.; Antonarakis S.E.;
Hum. Mol. Genet. 24:3082-3091(2015)
Cited for: FUNCTION; INVOLVEMENT IN ETL8; VARIANT ETL8 GLU-39; CHARACTERIZATION OF VARIANT ETL8 GLU-39;

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.