Variant position: 684 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:
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 QMGSFIRLKQFLEKCLQHKD IPVPKGFLTSSFWRS
Mouse QMGSFIRLKQFLEKCLQRRE IPVPRGFLTTSFWRS
Rat QMGSFIRLKQFLEKCLQRRE IPVPKGFLTPSFWRS
Bovine QMGSFIRLKQFLEKCLQHRE VPVPKGFLTASFWRS
Zebrafish YLCFASILHFTCIHWLQNIE ---------------
Drosophila EGGPKTRLEMLLAKFLRERQ IAQAVGVLPPGFW--
Slime mold TEGSFSRLKNLIEEYYKTGT FQQHEGV---DF---
Baker's yeast YVGA-ARLRILLEAWQNNNM ESFPEMSP-------
Fission yeast GGSQYGRLRIVGEDWMKGQ- -----GGLKFSFEP-
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.
Type Positions Description
1 – 698 Nucleoporin GLE1
656 – 698 Interaction with NUP42
660 – 698 Missing. In isoform 2.
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;
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.