UniProtKB/Swiss-Prot P00156: Variant p.Gly339Glu

Cytochrome b
Gene: MT-CYB
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Variant information Variant position:

339 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glycine (G) to Glutamate (E) at position 339 (G339E, p.Gly339Glu). 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 glycine (G) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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 mitochondrial myopathy. Any additional useful information about the variant.

Sequence information Variant position:

339 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

380 The length of the canonical sequence.
Location on the sequence:

PLSQSLYWLLAADLLILTWI G GQPVSYPFTIIGQVASVLYF 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                         PLSQSLYWLLAADLLILTWIGGQPVSYPFTIIGQVASVLYF

Gorilla                       PLSQLLYWFLIADLFTLTWIGGQPVSYPFITIGQVASVLYF

                              PLSQCLFWLLVADLLTLTWIGGQPVEHPFIIIGQVASILYF

Rhesus macaque                PLSQFLFWLLITILLTLTWIGSEPVVQPLTTIGQVASMMYF

Chimpanzee                    PLSQLLYWLLATDLLILTWIGGQPVSYPFITIGQMASVLYF

Mouse                         PITQILYWILVANLLILTWIGGQPVEHPFIIIGQLASISYF

Rat                           PITQILYWILVANLLILTWIGGQPVEHPFIIIGQLASISYF

Pig                           PLSQCLFWMLVADLITLTWIGGQPVEHPFIIIGQLASILYF

Bovine                        PLSQCLFWALVADLLTLTWIGGQPVEHPYITIGQLASVLYF

Rabbit                        PISQVLFWVLVADLLTLTWIGGQPVEHPFITIGQVASVLYF

Goat                          PISQCMFWILVADLLTLTWIGGQPVEHPYIIIGQLASIMYF

Sheep                         PISQCMFWILVADLLTLTWIGGQPVEHPYIIIGQLASIMYF

Cat                           PLSQCLFWLLVADLLTLTWIGGQPVEHPFITIGQLASILYF

Horse                         PLSQCVFWLLVADLLTLTWIGGQPVEHPYVIIGQLASILYF

Chicken                       PLSQTLFWLLVANLLILTWIGSQPVEHPFIIIGQMASLSYF

Xenopus laevis                PFTQIMFWALVADTLILTWIGGQPVEDPYTMIGQLASVIYF

Zebrafish                     PVTQFLFWTLVADMLVLTWIGGMPVEHPYIIIGQMASILYF

Caenorhabditis elegans        KLNKFLVFMFIISSTILSWLGQCTVEDPFTILSPLFSFIYF

Drosophila                    PINQVMFWSMLVTVILLTWIGARPVEEPYVLIGQILTVVYF

Slime mold                    KIHKHLFWSFLALCFFLGFLGSQPAAAPYLICGLYSTIAYF

Baker's yeast                 VLSKFFFFIFVFNFVLLGQIGACHVEVPYVLMGQIATFIYF

Fission yeast                 PFGKFFFWTFVADFVILAWIGGSHPENVFITIGAIATIFYF

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	1 – 380	Cytochrome b
Transmembrane	320 – 340	Helical
Helix	319 – 339

Literature citations
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Andreu A.L.; Bruno C.; Shanske S.; Shtilbans A.; Hirano M.; Krishna S.; Hayward L.; Systrom D.S.; Brown R.H. Jr.; Dimauro S.;
Neurology 51:1444-1447(1998)
Cited for: VARIANT MM GLU-339;

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.