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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WWV3: Variant p.Gly216Arg

NAD(P)H oxidoreductase RTN4IP1, mitochondrial
Gene: RTN4IP1
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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 LP/P [Disclaimer] 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 In OPA10. 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 396 The length of the canonical sequence.
Location on the sequence: help GGLNDKNCTGKRVLILGASG G VGTFAIQVMKAWDAHVTAVC 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                         GGL--------NDKNCTGKRVLILGASGGVGTFAIQVMKAW-DA-HVTAVC

Mouse                         GGL--------SDKNCKGKRALILGASGGVGTFAIQVMKAW

Bovine                        GGL--------NDRNCTGKRVLILGASGGVGTFAIQVMKAW

Zebrafish                     GGL--------NKDNSAKKRVLILGGSGGVGTFAIQMVKAW

Caenorhabditis elegans        ARV--------SQRNAKQQRVLIHGGAGGVGSMAIQLLKAW

Drosophila                    GGLGGPCGATTASGGGAHKRVLVLGGSGGVGTLAIQILKSQ

Slime mold                    LPT--------NKKITTNTKILVNGGNGSVGFFILQLLKKH
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 41 – 396 NAD(P)H oxidoreductase RTN4IP1, mitochondrial
Domain 52 – 393 Enoyl reductase (ER)
Binding site 214 – 214
Binding site 216 – 216
Binding site 217 – 217
Alternative sequence 208 – 226 VLILGASGGVGTFAIQVMK -> ISGKESIIAGHFSWPVAH. In isoform 3.
Mutagenesis 215 – 215 G -> A. Abolished NAD(P)H oxidoreductase activity.
Helix 216 – 227



Literature citations
Whole Exome Sequencing Identifies Two Novel Mutations in the Reticulon 4-Interacting Protein 1 Gene in a Chinese Family with Autosomal Recessive Optic Neuropathies.
Zou X.H.; Guo X.X.; Su H.Z.; Wang C.; Dong E.L.; Wang N.; Chen W.J.; Zhang Q.J.;
J. Mol. Neurosci. 68:640-646(2019)
Cited for: VARIANTS OPA10 ARG-216 AND 388-ARG--VAL-396 DEL;
Combined Optic Atrophy and Rod-Cone Dystrophy Expands the RTN4IP1 (Optic Atrophy 10) Phenotype.
Rajabian F.; Manitto M.P.; Palombo F.; Caporali L.; Grazioli A.; Starace V.; Arrigo A.; Cascavilla M.L.; La Morgia C.; Barboni P.; Bandello F.; Carelli V.; Battaglia Parodi M.;
J. Neuroophthalmol. 41:e290-e292(2021)
Cited for: VARIANTS OPA10 144-TRP--VAL-396 DEL AND ARG-216;
RTN4IP1-associated non-syndromic optic neuropathy and rod-cone dystrophy.
Gupta P.R.; O'Connell K.; Sullivan J.M.; Huckfeldt R.M.;
Ophthalmic Genet. 45:289-293(2024)
Cited for: VARIANT OPA10 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.