Variant position: 471 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1566 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 RRHRRQAVFRRIKTRTASTP VNTPSRPPSSEFLDLSSASED
Mouse RRHRRQAVFRRIKTRTASTP VNTPSRPPSSEFLDLSSASED
Rat RRHRRQAVFRRIKTRTASTP VNTPSRPPSSEFLDLSSASED
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 – 1566 Arginine-glutamic acid dipeptide repeats protein
1 – 554 Missing. In isoform 2.
De novo mutations of RERE cause a genetic syndrome with features that overlap those associated with proximal 1p36 deletions.
Fregeau B.; Kim B.J.; Hernandez-Garcia A.; Jordan V.K.; Cho M.T.; Schnur R.E.; Monaghan K.G.; Juusola J.; Rosenfeld J.A.; Bhoj E.; Zackai E.H.; Sacharow S.; Baranano K.; Bosch D.G.; de Vries B.B.; Lindstrom K.; Schroeder A.; James P.; Kulch P.; Lalani S.R.; van Haelst M.M.; van Gassen K.L.; van Binsbergen E.; Barkovich A.J.; Scott D.A.; Sherr E.H.;
Am. J. Hum. Genet. 98:963-970(2016)
Cited for: INVOLVEMENT IN NEDBEH; VARIANTS NEDBEH ILE-471; ARG-1156; ARG-1262 AND GLN-1431; CHARACTERIZATION OF VARIANT NEDBEH ARG-1156;
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.