Sequence information
Variant position: 647 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1006 The length of the canonical sequence.
Location on the sequence:
IRPPLLVDKIVCRELRDPGS
F LLIYLNEFHSAVGAYTFQAS
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 IRPPLLVDKIVCRELRDPGSF LLIYLNEFHSAVGAYTFQAS
Mouse IRPPLLVDKIVCRELRDPGSF LLIYLNEFHSAVGAYTFQAS
Rat IRPPLLVDKIVCRELRDPGSF LLIHLNEFHSAVGAYTFQAS
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
Chain
1 – 1006
Pleckstrin homology domain-containing family G member 5
Domain
584 – 684
PH
Literature citations
The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset.
Maystadt I.; Rezsoehazy R.; Barkats M.; Duque S.; Vannuffel P.; Remacle S.; Lambert B.; Najimi M.; Sokal E.; Munnich A.; Viollet L.; Verellen-Dumoulin C.;
Am. J. Hum. Genet. 81:67-76(2007)
Cited for: VARIANT DSMA4 SER-647;
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.