UniProtKB/Swiss-Prot Q8WWV3: Variant p.Arg103His

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

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

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:

From Arginine (R) to Histidine (H) at position 103 (R103H, p.Arg103His). 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 large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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; strongly reduced NAD(P)H oxidoreductase activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs372054380 [ dbSNP | Ensembl ]

Sequence information Variant position:

103 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:

VNPIDVNMRSGYGATALNMK R DPLHVKIKGEEFPLTLGRDV 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                         VNPIDVNMRSGYGATALN-MKRDPLHVKIKGEEFPLTLGRDV

Mouse                         VNPIDVNMRSGYGATALN-MKRDPLHMKTKGEEFPLTLGRD

Bovine                        INPIDVNMRSGYGATALN-MKRDPLHVKIKGEEFPLTLGRD

Zebrafish                     LNPIDISMRGGYGAATMA-MKRDPLNISQSGGEFPLILGRD

Caenorhabditis elegans        VNPIDVDMSQGYGREFLG-TWKKIESCDAAASRFPLIPGRD

Drosophila                    VNPIDLAMLRGYGATVLNKMRCQP----GDGIEFPLILGRE

Slime mold                    INPLDNVMRKGYASSIVD-LK----------LKLPIILGRE

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)
Helix	96 – 103

Literature citations
Mitochondrial matrix RTN4IP1/OPA10 is an oxidoreductase for coenzyme Q synthesis.
Park I.; Kim K.E.; Kim J.; Kim A.K.; Bae S.; Jung M.; Choi J.; Mishra P.K.; Kim T.M.; Kwak C.; Kang M.G.; Yoo C.M.; Mun J.Y.; Liu K.H.; Lee K.S.; Kim J.S.; Suh J.M.; Rhee H.W.;
Nat. Chem. Biol. 20:221-233(2024)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBCELLULAR LOCATION; MUTAGENESIS OF GLY-215; CHARACTERIZATION OF VARIANT OPA10 HIS-103; Recessive mutations in RTN4IP1 cause isolated and syndromic optic neuropathies.
Angebault C.; Guichet P.O.; Talmat-Amar Y.; Charif M.; Gerber S.; Fares-Taie L.; Gueguen N.; Halloy F.; Moore D.; Amati-Bonneau P.; Manes G.; Hebrard M.; Bocquet B.; Quiles M.; Piro-Megy C.; Teigell M.; Delettre C.; Rossel M.; Meunier I.; Preising M.; Lorenz B.; Carelli V.; Chinnery P.F.; Yu-Wai-Man P.; Kaplan J.; Roubertie A.; Barakat A.; Bonneau D.; Reynier P.; Rozet J.M.; Bomont P.; Hamel C.P.; Lenaers G.;
Am. J. Hum. Genet. 97:754-760(2015)
Cited for: VARIANTS OPA10 HIS-103 AND 201-LYS--VAL-396 DEL; SUBCELLULAR LOCATION; Siblings with optic neuropathy and RTN4IP1 mutation.
Okamoto N.; Miya F.; Hatsukawa Y.; Suzuki Y.; Kawato K.; Yamamoto Y.; Tsunoda T.; Kato M.; Saitoh S.; Yamasaki M.; Kanemura Y.; Kosaki K.;
J. Hum. Genet. 62:927-929(2017)
Cited for: VARIANT OPA10 HIS-103; 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; Optic Atrophy and Generalized Chorea in a Patient Harboring an OPA10/RTN4IP1 Pathogenic Variant.
Giacomini T.; Gamucci A.; Pisciotta L.; Nesti C.; Fiorillo C.; Doccini S.; Morana G.; Nobili L.; Santorelli F.M.; Mancardi M.M.; De Grandis E.;
Neuropediatrics 51:425-429(2020)
Cited for: VARIANT OPA10 HIS-103; A rod-cone dystrophy is systematically associated to the RTN4IP1 recessive optic atrophy.
Meunier I.; Bocquet B.; Charif M.; Dhaenens C.M.; Manes G.; Amati-Bonneau P.; Roubertie A.; Zanlonghi X.; Lenaers G.;
Retina 41:1771-1779(2021)
Cited for: VARIANTS OPA10 HIS-103 AND 201-LYS--VAL-396 DEL;

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.