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UniProtKB/Swiss-Prot O60313: Variant p.Ala192Val

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

Variant position:  192
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Alanine (A) to Valine (V) at position 192 (A192V, p.Ala192Val).
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 hydrophobic (A) to medium size and hydrophobic (V)
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

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

Sequence information

Variant position:  192
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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                         IVESLSLLKDFFTSG------------------SPEETAFRATD-------RGSESDKHFRKVSDK

Mouse                         ITESLSLLKDFFTAG------------------SPGETAFR

Rat                           IAESLSLLKDFFTAG------------------TPGETAFR


Zebrafish                     IGENFTFLKSLLSSE------------------TTGESALR

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.

Chain 88 – 960 Dynamin-like 120 kDa protein, mitochondrial
Topological domain 114 – 960 Mitochondrial intermembrane
Alternative sequence 186 – 186 G -> GHKLVSEVIGASDLLLLLG. In isoform 4 and isoform 5.
Alternative sequence 206 – 206 F -> FRKGLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQK. In isoform 3 and isoform 4.
Alternative sequence 209 – 209 V -> GLLGELILLQQQIQEHEEEARRAAGQYSTSYAQQKRKV. In isoform 2.

Literature citations

OPA1 mutations in patients with autosomal dominant optic atrophy and evidence for semi-dominant inheritance.
Pesch U.E.A.; Leo-Kottler B.; Mayer S.; Jurklies B.; Kellner U.; Apfelstedt-Sylla E.; Zrenner E.; Alexander C.; Wissinger B.;
Hum. Mol. Genet. 10:1359-1368(2001)
Cited for: VARIANTS OPA1 LYS-270; ALA-273; GLN-290; TRP-290; VAL-438; GLU-468; CYS-551 DEL AND ARG-785; VARIANTS ASN-158; VAL-192 AND ASN-550;

A comprehensive survey of mutations in the OPA1 gene in patients with autosomal dominant optic atrophy.
Thiselton D.L.; Alexander C.; Taanman J.-W.; Brooks S.; Rosenberg T.; Eiberg H.; Andreasson S.; Van Regemorter N.; Munier F.L.; Moore A.T.; Bhattacharya S.S.; Votruba M.;
Invest. Ophthalmol. Vis. Sci. 43:1715-1724(2002)
Cited for: VARIANTS OPA1 38-ARG--SER-43 DEL; 586-ARG--ASP-589 DEL; ARG-396; ILE-432 DEL; LYS-503 AND HIS-571; VARIANTS ASN-158; LEU-167 AND VAL-192;

OPA1 mutations and mitochondrial DNA haplotypes in autosomal dominant optic atrophy.
Han J.; Thompson-Lowrey A.J.; Reiss A.; Mayorov V.; Jia H.; Biousse V.; Newman N.J.; Brown M.D.;
Genet. Med. 8:217-225(2006)

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.