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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H6L5: Variant p.Gly216Arg

Reticulophagy regulator 1
Gene: RETREG1
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Variant information Variant position: help 216 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change: help From Glycine (G) to Arginine (R) at position 216 (G216R, p.Gly216Arg). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Change from glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description: help Found in a patient with HSAN2B; uncertain significance; dramatically enhances homooligomerization which results in aberrant endoplasmic reticulum scission and excessive reticulophagy; induces sensory neuron death in vitro. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 216 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 497 The length of the canonical sequence.
Location on the sequence: help FCLLVCSVCTFFTILGSYIP G VILSYLLLLCAFLCPLFKCN 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         FCLLVCSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCN

Mouse                         FCLLVCSVCTFFTILGSYIPGVILSYLLLLFAFLCPLFKCN

Rat                           FCLLVCSVCTFFTILGSYIPGVILSYLLLLFAFLCPLFKCN

Bovine                        FCLLVCSVCTFFTILGSYIPGVILSYLLLLCAFLCPLFKCN

Caenorhabditis elegans        FREADARSNNY----ARKDHGYKMHNIELKNEYTSTTYRCR

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 497 Reticulophagy regulator 1
Transmembrane 209 – 229 Helical
Region 84 – 233 Reticulon homology domain



Literature citations
FAM134B oligomerization drives endoplasmic reticulum membrane scission for ER-phagy.
Jiang X.; Wang X.; Ding X.; Du M.; Li B.; Weng X.; Zhang J.; Li L.; Tian R.; Zhu Q.; Chen S.; Wang L.; Liu W.; Fang L.; Neculai D.; Sun Q.;
EMBO J. 39:e102608-e102608(2020)
Cited for: FUNCTION; SUBUNIT; DOMAIN; PHOSPHORYLATION AT SER-149; SER-151 AND SER-153; MUTAGENESIS OF SER-149; SER-151 AND SER-153; CHARACTERIZATION OF VARIANT ARG-216; Frequency of mutations in the genes associated with hereditary sensory and autonomic neuropathy in a UK cohort.
Davidson G.L.; Murphy S.M.; Polke J.M.; Laura M.; Salih M.A.; Muntoni F.; Blake J.; Brandner S.; Davies N.; Horvath R.; Price S.; Donaghy M.; Roberts M.; Foulds N.; Ramdharry G.; Soler D.; Lunn M.P.; Manji H.; Davis M.B.; Houlden H.; Reilly M.M.;
J. Neurol. 259:1673-1685(2012)
Cited for: VARIANT ARG-216;
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.