Sequence information
Variant position: 204 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1386 The length of the canonical sequence.
Location on the sequence:
EDFDIYTLYCMNYPSSLALL
R ELSLSPPAALWLQERQAQLR
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 EDFDIYTLYCMNYPSSLALLR ELSLSPPAALWLQERQAQLR
Mouse EDFDIYTLYCMNYPSSLALLR ELSVSPPATLWLQERQAQLR
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 – 1386
Pleckstrin homology domain-containing family G member 2
Domain
102 – 283
DH
Literature citations
Microcephaly-dystonia due to mutated PLEKHG2 with impaired actin polymerization.
Edvardson S.; Wang H.; Dor T.; Atawneh O.; Yaacov B.; Gartner J.; Cinnamon Y.; Chen S.; Elpeleg O.;
Neurogenetics 17:25-30(2016)
Cited for: FUNCTION; INVOLVEMENT IN LDAMD; VARIANT LDAMD TRP-204; CHARACTERIZATION OF VARIANT LDAMD TRP-204;
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.