Sequence information
Variant position: 355 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 476 The length of the canonical sequence.
Location on the sequence:
VHERPYPCPAEGCDRRFSRS
D ELTRHIRIHTGHKPFQCRIC
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 VHERPYPCPAEGCDRRFSRSD ELTRHIRIHTGHKPFQCRIC
Mouse VHERPYPCPAEGCDRRFSRSD ELTRHIRIHTGHKPFQCRIC
Rat VHERPYPCPAEGCDRRFSRSD ELTRHIRIHTGHKPFQCRIC
Pig VHERPYPCPAEGCDRRFSRSD ELTRHIRIHTGHKPFQCRIC
Xenopus laevis VHERPYPCPAEGCDRRFSRSD ELTRHIRIHTGHKPFQCRIC
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 – 476
E3 SUMO-protein ligase EGR2
Zinc finger
340 – 364
C2H2-type 1
Literature citations
EGR2 gene mutation in a patient affected with Charcot-Marie-Tooth type 1.
Di Maria E.; Bellone E.; Soriani S.; Varese A.; Lamba Doria L.; Grandis M.; Schenone A.; Levi G.; Ajmar F.; Mandich P.;
Cited for: VARIANT CMT1D VAL-355;
A novel mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease.
Bellone E.; Di Maria E.; Soriani S.; Varese A.; Lamba Doria L.; Ajmar F.; Mandich P.;
Hum. Mutat. 14:353-354(1999)
Cited for: VARIANT CMT1D VAL-355;
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.