Variant position: 56 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 410 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 EDPTGVSPSLQCRVCGDSSS GKHYGIYACNGCSGFFKRSVR
Mouse EDPTGVGPSLQCRVCGDSSS GKHYGIYACNGCSGFFKRSVR
Bovine EEPTGVGPSLQCRVCGDSSS GKHYGIYACNGCSGFFKRSVR
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 – 410 Photoreceptor-specific nuclear receptor
44 – 120 Nuclear receptor
47 – 67 NR C4-type
Recurrent mutation in the first zinc finger of the orphan nuclear receptor NR2E3 causes autosomal dominant retinitis pigmentosa.
Coppieters F.; Leroy B.P.; Beysen D.; Hellemans J.; De Bosscher K.; Haegeman G.; Robberecht K.; Wuyts W.; Coucke P.J.; De Baere E.;
Am. J. Hum. Genet. 81:147-157(2007)
Cited for: VARIANT RP37 ARG-56;
Mutations in NR2E3 can cause dominant or recessive retinal degenerations in the same family.
Escher P.; Gouras P.; Roduit R.; Tiab L.; Bolay S.; Delarive T.; Chen S.; Tsai C.C.; Hayashi M.; Zernant J.; Merriam J.E.; Mermod N.; Allikmets R.; Munier F.L.; Schorderet D.F.;
Hum. Mutat. 30:342-351(2009)
Cited for: VARIANT RP37 ARG-56; VARIANT ESCS GLN-311;
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