Sequence information
Variant position: 359 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:
PYPCPAEGCDRRFSRSDELT
R HIRIHTGHKPFQCRICMRNF
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 PYPCPAEGCDRRFSRSDELTR HIRIHTGHKPFQCRICMRNF
Mouse PYPCPAEGCDRRFSRSDELTR HIRIHTGHKPFQCRICMRNF
Rat PYPCPAEGCDRRFSRSDELTR HIRIHTGHKPFQCRICMRNF
Pig PYPCPAEGCDRRFSRSDELTR HIRIHTGHKPFQCRICMRNF
Xenopus laevis PYPCPAEGCDRRFSRSDELTR HIRIHTGHKPFQCRICMRNF
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
Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype.
Timmerman V.; De Jonghe P.; Ceuterick C.; De Vriendt E.; Lofgren A.; Nelis E.; Warner L.E.; Lupski J.R.; Martin J.-J.; Van Broeckhoven C.;
Neurology 52:1827-1832(1999)
Cited for: VARIANT DSS TRP-359;
Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
Choi B.-O.; Lee M.S.; Shin S.H.; Hwang J.H.; Choi K.-G.; Kim W.-K.; Sunwoo I.N.; Kim N.K.; Chung K.W.;
Hum. Mutat. 24:185-186(2004)
Cited for: VARIANT CMT1D TRP-359;
Two missense mutations of EGR2 R359W and GJB1 V136A in a Charcot-Marie-Tooth disease family.
Chung K.W.; Sunwoo I.N.; Kim S.M.; Park K.D.; Kim W.-K.; Kim T.S.; Koo H.; Cho M.; Lee J.; Choi B.O.;
Neurogenetics 6:159-163(2005)
Cited for: VARIANT CMT1D TRP-359;
Functional, histopathologic and natural history study of neuropathy associated with EGR2 mutations.
Szigeti K.; Wiszniewski W.; Saifi G.M.; Sherman D.L.; Sule N.; Adesina A.M.; Mancias P.; Papasozomenos S.C.; Miller G.; Keppen L.; Daentl D.; Brophy P.J.; Lupski J.R.;
Neurogenetics 8:257-262(2007)
Cited for: VARIANT DSS LYS-412; CHARACTERIZATION OF VARIANTS CHN1 ASN-268; DSS LYS-412 AND DSS/CMT1D TRP-359; FUNCTION;
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.