UniProtKB/Swiss-Prot O60313: Variant p.Asp550Asn

Dynamin-like GTPase OPA1, mitochondrial
Gene: OPA1
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Variant information Variant position:

550 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 Aspartate (D) to Asparagine (N) at position 550 (D550N, p.Asp550Asn). 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 medium size and acidic (D) to medium size and polar (N) 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

Sequence information Variant position:

550 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:

KTSMLKAHQVTTRNLSLAVS D CFWKMVRESVEQQADSFKAT 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                         KTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKAT

Mouse                         KTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKAT

Rat                           KTSMLKAHQVTTRNLSLAVSDCFWKMVRESVEQQADSFKAT

Chicken                       KTSMLKAHQVTTKNLSLAVSDCFWKMVRESVEQQADAFKAT

Zebrafish                     KDGMLKAHQVTTKNLSLAVSDCFWKMVRESVEQQADAFKAS

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	88 – 960	Dynamin-like GTPase OPA1, long form
Chain	195 – 960	Dynamin-like GTPase OPA1, short form
Topological domain	114 – 770	Mitochondrial intermembrane
Domain	285 – 561	Dynamin-type G
Mutagenesis	557 – 557	R -> A. In interface mutant 9; strongly decreased ability to mediate mitochondrial fusion; when associated with A-213, A-217 and A-565.
Mutagenesis	565 – 565	D -> A. In interface mutant 9; strongly decreased ability to mediate mitochondrial fusion; when associated with A-213, A-217 and A-557.
Helix	541 – 559

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.