UniProtKB/Swiss-Prot Q8WWV3: Variant p.Ser167Phe

NAD(P)H oxidoreductase RTN4IP1, mitochondrial
Gene: RTN4IP1
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Variant information Variant position:

167 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Serine (S) to Phenylalanine (F) at position 167 (S167F, p.Ser167Phe). 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:

Change from small size and polar (S) to large size and aromatic (F) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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:

In OPA10; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

167 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

396 The length of the canonical sequence.
Location on the sequence:

VPPWKQGTLSEFVVVSGNEV S HKPKSLTHTQAASLPYVALT 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                         VPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAASLPYVALT

Mouse                         VPPWKQGTLSEFVVVSGNEVSHKPKSLTHTQAASLPYVALT

Bovine                        VPPWKQGTLSEFVVVSGNEVSHKPRSLTHTQAASLPYVALT

Zebrafish                     IPPWKQGSLAEFVVVSGNEVSHKPKSLRHDEAASIPYVAAT

Caenorhabditis elegans        VPVILPGTHAEFVVTDSKYCSKKPSNLSFVSAAALPYVAST

Slime mold                    SPPFSMGSHCEYITVDESEISLKPKNLTHQQSASIPFASLT

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
Chain	41 – 396	NAD(P)H oxidoreductase RTN4IP1, mitochondrial
Domain	52 – 393	Enoyl reductase (ER)
Beta strand	166 – 168

Literature citations
Neurologic Phenotypes Associated With Mutations in RTN4IP1 (OPA10) in Children and Young Adults.
Charif M.; Nasca A.; Thompson K.; Gerber S.; Makowski C.; Mazaheri N.; Bris C.; Goudenege D.; Legati A.; Maroofian R.; Shariati G.; Lamantea E.; Hopton S.; Ardissone A.; Moroni I.; Giannotta M.; Siegel C.; Strom T.M.; Prokisch H.; Vignal-Clermont C.; Derrien S.; Zanlonghi X.; Kaplan J.; Hamel C.P.; Leruez S.; Procaccio V.; Bonneau D.; Reynier P.; White F.E.; Hardy S.A.; Barbosa I.A.; Simpson M.A.; Vara R.; Perdomo Trujillo Y.; Galehdari H.; Deshpande C.; Haack T.B.; Rozet J.M.; Taylor R.W.; Ghezzi D.; Amati-Bonneau P.; Lenaers G.;
JAMA Neurol. 75:105-113(2018)
Cited for: VARIANTS OPA10 ILE-43; CYS-51; HIS-103; SER-105; 144-TRP--VAL-396 DEL; PHE-167; GLU-321; PRO-356 AND PHE-362;

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.