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UniProtKB/Swiss-Prot Q6P4F2: Variant p.Pro144Leu

Ferredoxin-2, mitochondrial
Gene: FDX2
Variant information

Variant position:  144
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Proline (P) to Leucine (L) at position 144 (P144L, p.Pro144Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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

Variant description:  In MEOAL; strongly reduced protein expression in muscle in affected homozygous patients compared to control individuals.
Any additional useful information about the variant.

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



Sequence information

Variant position:  144
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  186
The length of the canonical sequence.

Location on the sequence:   DHLDLLPPPEEREDDMLDMA  P LLQENSRLGCQIVLTPELEG
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                         DHLDLLPPPEEREDDMLDMAPLLQENSRLGCQIVLTPELEG

Mouse                         AHLDLLPPPEEREDDMLDMAPLLQENSRLGCQIVLTPELEG

Bovine                        DHLDLLPPPDEREDDMLDMAPLLQENSRLGCQIVLTPELEG

Xenopus laevis                EYFHKLPEPDEREDDMLDMAPLLQENSRLGCQIILTKQLNG

Zebrafish                     GHYDRLPEPEEREDDMLDMAPLLQENSRLGCQIILTPELDG

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.

TypePositionsDescription
Chain 56 – 186 Ferredoxin-2, mitochondrial
Domain 71 – 173 2Fe-2S ferredoxin-type
Metal binding 154 – 154 Iron-sulfur (2Fe-2S)
Alternative sequence 136 – 186 EDDMLDMAPLLQENSRLGCQIVLTPELEGAEFTLPKITRNFYVDGHVPKPH -> RTRGWAARLC. In isoform 2.


Literature citations

A novel complex neurological phenotype due to a homozygous mutation in FDX2.
Gurgel-Giannetti J.; Lynch D.S.; Paiva A.R.B.; Lucato L.T.; Yamamoto G.; Thomsen C.; Basu S.; Freua F.; Giannetti A.V.; de Assis B.D.R.; Ribeiro M.D.O.; Barcelos I.; Sayao Souza K.; Monti F.; Melo U.S.; Amorim S.; Silva L.G.L.; Macedo-Souza L.I.; Vianna-Morgante A.M.; Hirano M.; Van der Knaap M.S.; Lill R.; Vainzof M.; Oldfors A.; Houlden H.; Kok F.;
Brain 141:2289-2298(2018)
Cited for: INVOLVEMENT IN MEOAL; VARIANT MEOAL LEU-144; CHARACTERIZATION OF VARIANT MEOAL LEU-144; TISSUE SPECIFICITY;

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.