Variant position: 259 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 473 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 SALPTEALAPLRALQYLRLN DNPWVCDCRARPLWAWLQKFR
Mouse SMLPAEVLMPLRSLQYLRLN DNPWVCDCRARPLWAWLQKFR
Rat SMLPAEVLVPLRSLQYLRLN DNPWVCDCRARPLWAWLQKFR
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
27 – 447 Reticulon-4 receptor
250 – 273 LRR 9
277 – 277 K -> A. No effect on interaction with MAG.
277 – 277 K -> D. Decreases interaction with MAG; when associated with D-279.
279 – 279 R -> A. Mildly decreases interaction with MAG.
279 – 279 R -> D. Decreases interaction with MAG; when associated with D-277.
279 – 279 R -> E. Impaired ganglioside binding.
A novel rare variant R292H in RTN4R affects growth cone formation and possibly contributes to schizophrenia susceptibility.
Kimura H.; Fujita Y.; Kawabata T.; Ishizuka K.; Wang C.; Iwayama Y.; Okahisa Y.; Kushima I.; Morikawa M.; Uno Y.; Okada T.; Ikeda M.; Inada T.; Branko A.; Mori D.; Yoshikawa T.; Iwata N.; Nakamura H.; Yamashita T.; Ozaki N.;
Transl. Psychiatry 7:E1214-E1214(2017)
Cited for: FUNCTION; VARIANTS HIS-68; ASN-259 AND MET-363; INVOLVEMENT IN SCZD; VARIANT SCZD HIS-292; CHARACTERIZATION OF VARIANT SCZD HIS-292;
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.