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UniProtKB/Swiss-Prot O60313: Variant p.Ile382Met

Dynamin-like 120 kDa protein, mitochondrial
Gene: OPA1
Variant information

Variant position:  382
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 Isoleucine (I) to Methionine (M) at position 382 (I382M, p.Ile382Met).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
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 OPA1 and BEHRS.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  382
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  960
The length of the canonical sequence.

Location on the sequence:   EIELRMRKNVKEGCTVSPET  I SLNVKGPGLQRMVLVDLPGV
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                         EIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGV

Mouse                         EIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGV

Rat                           EIELRMRKNVKEGCTVSPETISLNVKGPGLQRMVLVDLPGV

Chicken                       EIEIRMRNSVKEGCTVSTETISLSVRGPGLQRMVLVDLPGV

Zebrafish                     EIELRMRKSVKEGQTVSPETISLSVKGPGIQRMVLVDLPGV

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.

TypePositionsDescription
Chain 88 – 960 Dynamin-like 120 kDa protein, mitochondrial
Chain 195 – 960 Dynamin-like 120 kDa protein, form S1
Topological domain 114 – 960 Mitochondrial intermembrane
Domain 285 – 561 Dynamin-type G
Beta strand 382 – 388


Literature citations

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.
Schaaf C.P.; Blazo M.; Lewis R.A.; Tonini R.E.; Takei H.; Wang J.; Wong L.J.; Scaglia F.;
Mol. Genet. Metab. 103:383-387(2011)
Cited for: INVOLVEMENT IN BEHRS; VARIANT BEHRS MET-382;

Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.
Bonneau D.; Colin E.; Oca F.; Ferre M.; Chevrollier A.; Gueguen N.; Desquiret-Dumas V.; N'Guyen S.; Barth M.; Zanlonghi X.; Rio M.; Desguerre I.; Barnerias C.; Momtchilova M.; Rodriguez D.; Slama A.; Lenaers G.; Procaccio V.; Amati-Bonneau P.; Reynier P.;
Brain 137:E301-E301(2014)
Cited for: INVOLVEMENT IN BEHRS; VARIANTS BEHRS MET-382; MET-402 AND LYS-487;

'Behr syndrome' with OPA1 compound heterozygote mutations.
Carelli V.; Sabatelli M.; Carrozzo R.; Rizza T.; Schimpf S.; Wissinger B.; Zanna C.; Rugolo M.; La Morgia C.; Caporali L.; Carbonelli M.; Barboni P.; Tonon C.; Lodi R.; Bertini E.;
Brain 138:E321-E321(2015)
Cited for: INVOLVEMENT IN BEHRS; VARIANT BEHRS MET-382;

Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.
Ferre M.; Bonneau D.; Milea D.; Chevrollier A.; Verny C.; Dollfus H.; Ayuso C.; Defoort S.; Vignal C.; Zanlonghi X.; Charlin J.-F.; Kaplan J.; Odent S.; Hamel C.P.; Procaccio V.; Reynier P.; Amati-Bonneau P.;
Hum. Mutat. 30:E692-E705(2009)
Cited for: VARIANTS OPA1 MET-95; CYS-102; 293-VAL-VAL-294 DEL; ARG-310; THR-357; MET-382; PRO-396; 429-PRO-ASN-430 DEL; ASP-430; ARG-449; 463-ILE-PHE-464 INS; LYS-487; ARG-545; TYR-551; GLN-590; PRO-593; LEU-646; ASP-768; TRP-781; TYR-823; LEU-882; PRO-887; CYS-932 AND PRO-949;

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.