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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60313: Variant p.Asp438Val

Dynamin-like 120 kDa protein, mitochondrial
Gene: OPA1
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Variant information Variant position: help 438 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 Aspartate (D) to Valine (V) at position 438 (D438V, p.Asp438Val). 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 medium size and acidic (D) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 OPA1. Any additional useful information about the variant.


Sequence information Variant position: help 438 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 960 The length of the canonical sequence.
Location on the sequence: help IFSISKAYMQNPNAIILCIQ D GSVDAERSIVTDLVSQMDPH 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                         IFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPH

Mouse                         IFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPH

Rat                           IFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPH

Chicken                       IFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPQ

Zebrafish                     IFSISKAYMQNPNAIILCIQDGSVDAERSIVTDLVSQMDPQ

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 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 432 – 438



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;
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.