Variant position: 268 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:
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 PFPCPLDTLRVPPPLTPLST IRNFTLGGPSAGVTGPGASGG
Mouse PFPCPLDSLRVPPPLTPLST IRNFTLGGPGAGVTGPGASGG
Rat PFPCPLDSLRVPPPLTPLST IRNFTLGGPSAGVTGPGASGG
Pig PFPCPLDSLRVPPPLTPLST IRNFTLGGPSAGTTGPGASGG
Xenopus laevis PFPCP----RHP---SPLST IRNFTLGGSS-----------
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 – 476 E3 SUMO-protein ligase EGR2
Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies.
Warner L.E.; Mancias P.; Butler I.J.; McDonald C.M.; Keppen L.; Koob K.G.; Lupski J.R.;
Nat. Genet. 18:382-384(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM LONG); VARIANTS CHN ASN-268 AND 382-ARG-TYR-383; VARIANT CMT1D TRP-409;
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.