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UniProtKB/Swiss-Prot Q53GS7: Variant p.Arg569His

Nucleoporin GLE1
Gene: GLE1
Variant information

Variant position:  569
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 Arginine (R) to Histidine (H) at position 569 (R569H, p.Arg569His).
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 (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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:  Lethal congenital contracture syndrome 1 (LCCS1) [MIM:253310]: A form of lethal congenital contracture syndrome, an autosomal recessive disorder characterized by degeneration of anterior horn neurons, extreme skeletal muscle atrophy, and congenital non-progressive joint contractures (arthrogryposis). The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth. LCCS1 patients manifest early fetal hydrops and akinesia, micrognathia, pulmonary hypoplasia, pterygia, and multiple joint contractures. It leads to prenatal death. {ECO:0000269|PubMed:18204449}. 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 LCCS1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  569
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  698
The length of the canonical sequence.

Location on the sequence:   RMLGYQVKDSKVEQQDNFLK  R MSGMIRLYAAIIQLRWPYGN
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                         RMLGYQV-------KDSKVEQQDNFLKRMSGMIRLYAAIIQLRWP-YGN

Mouse                         RMLGYQV-------TDSKVEQQDNFLKRMSGMIRLYAAIIQ

Rat                           RMLGYQV-------TDSKVEQQDNFLKRMSGMIRLYAAIIQ

Bovine                        RMLGYQV-------KDSKVEQQDNFLKRMSGMIRLYAAIIQ

Zebrafish                     KILGYRV-------DEGKVEGQDSFLKRMSGMIRLYAAIIQ

Drosophila                    KTIGYRLT------DKNELEKPDIYLKRQTGLARLYAAVII

Slime mold                    KRMGYAFSNDIVGDNDKPIETEDEFHKRICGYLSLYCALIL

Baker's yeast                 QNMGWKRN------NENKWEDNTSYDERMGGILSLFAIITR

Fission yeast                 KKMGFKKL------SDGHWEQNTTYNERQCGIFAVYAAILS

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 – 698 Nucleoporin GLE1
Helix 564 – 580


Literature citations

Mutations in mRNA export mediator GLE1 result in a fetal motoneuron disease.
Nousiainen H.O.; Kestilae M.; Pakkasjaervi N.; Honkala H.; Kuure S.; Tallila J.; Vuopala K.; Ignatius J.; Herva R.; Peltonen L.;
Nat. Genet. 40:155-157(2008)
Cited for: VARIANTS LCCS1 PRO-PHE-GLN-144 INS AND HIS-569; VARIANTS CAAHD MET-617 AND THR-684; CHARACTERIZATION OF VARIANT LCCS1 PRO-PHE-GLN-144 INS;

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.