UniProtKB/Swiss-Prot O60313: Variant p.Val502Gly

Dynamin-like GTPase OPA1, mitochondrial
Gene: OPA1
Feedback?

Variant information Variant position:

502 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 Valine (V) to Glycine (G) at position 502 (V502G, p.Val502Gly). 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 hydrophobic (V) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-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

Sequence information Variant position:

502 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:

IQQIIEGKLFPMKALGYFAV V TGKGNSSESIEAIREYEEEF 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                         IQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEF

Mouse                         IQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEF

Rat                           IQQIIEGKLFPMKALGYFAVVTGKGNSSESIEAIREYEEEF

Chicken                       IQQIIEGKLFPMKALGYFAVVTGKGNSSESIESIKEYEEEF

Zebrafish                     IQQIVEGKLFPMKALGYFAVVTGKGSPNESIDSIKDYEEDF

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
Region	501 – 504	G5 motif
Binding site	503 – 503
Binding site	506 – 506
Binding site	507 – 507
Mutagenesis	503 – 503	T -> A. Decreased GTPase activity.

Literature citations
Novel mutations of the OPA1 gene in Chinese dominant optic atrophy.
Yen M.Y.; Wang A.G.; Lin Y.C.; Fann M.J.; Hsiao K.J.;
Ophthalmology 117:392-396(2010)
Cited for: VARIANTS OPA1 LEU-593 DEL AND PRO-949; VARIANT GLY-502;

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.