Sequence information
Variant position: 412 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:
HTGEKPFACDYCGRKFARSD
E RKRHTKIHLRQKERKSSAPS
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 HTGEKPFACDYCGRKFARSDE RKRHTKIHLRQKERKSSAPS
Mouse HTGEKPFACDYCGRKFARSDE RKRHTKIHLRQKERKSSAPS
Rat HTGEKPFACDYCGRKFARSDE RKRHTKIHLRQKERKSSAPS
Pig HTGEKPFACDYCGRKFARSDE RKRHTKIHLRQKERKSSAPS
Xenopus laevis HTGEKPFACDYCGRKFARSDE RKRHTKIHLRQKERKNSATA
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
398 – 420
C2H2-type 3
Region
412 – 476
Disordered
Literature citations
Charcot-Marie-Tooth neuropathy due to a novel EGR2 gene mutation with mild phenotype--usefulness of human mapping chip linkage analysis in a Czech family.
Safka Brozkova D.; Nevsimalova S.; Mazanec R.; Rautenstrauss B.; Seeman P.;
Neuromuscul. Disord. 22:742-746(2012)
Cited for: VARIANT CMT1D GLY-412;
A novel family with axonal Charcot-Marie-Tooth disease caused by a mutation in the EGR2 gene.
Tozza S.; Magri S.; Pennisi E.M.; Schirinzi E.; Pisciotta C.; Balistreri F.; Severi D.; Ricci G.; Siciliano G.; Taroni F.; Santoro L.; Manganelli F.;
J. Peripher. Nerv. Syst. 24:219-223(2019)
Cited for: VARIANT CMT1D GLY-412; CHARACTERIZATION OF VARIANT CMT1D GLY-412;
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.