Variant position: 334 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 AVDPTEFACMKALVLFKPET RGLKDPEHVEALQDQSQVMLS
Mouse AVDPTEFACLKALVLFKPET RGLKDPEHVEALQDQSQVMLS
Bovine AVDPTEFACMKALVLFKPET RGLKDPEHVEALQDQSQVMLS
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
333 – 333 Phosphothreonine
330 – 330 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
337 – 337 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO)
Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity.
Hayashi T.; Gekka T.; Goto-Omoto S.; Takeuchi T.; Kubo A.; Kitahara K.;
Cited for: VARIANTS GLN-104 AND GLY-334; ASSOCIATION OF VARIANTS GLN-104 AND GLY-334 WITH ESCS;
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