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UniProtKB/Swiss-Prot Q86VD7: Variant p.Asn291Asp

Mitochondrial coenzyme A transporter SLC25A42
Gene: SLC25A42
Variant information

Variant position:  291
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 Asparagine (N) to Aspartate (D) at position 291 (N291D, p.Asn291Asp).
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 polar (N) to medium size and acidic (D)
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

Variant description:  In MECREN; loss-of-function variant unable to rescue motor deficiencies in zebrafish morphants.
Any additional useful information about the variant.

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



Sequence information

Variant position:  291
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  318
The length of the canonical sequence.

Location on the sequence:   LRTIVREEGAVRGLYKGLSM  N WVKGPIAVGISFTTFDLMQI
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                         LRTIVREEGAVRGLYKGLSMNWVKGPIAVGISFTTFDLMQI

Mouse                         LRSIVREEGAVRGLYKGLSMNWLKGPIAVGISFTTFDLMQI

Rat                           LRSIVREEGAVRGLYKGLSMNWLKGPIAVGISFTTFDLMQI

Xenopus laevis                MQEIVAEEGFIRGLYKGLSMNWVKGPVAVGISFTTFDLTQI

Xenopus tropicalis            MQEIVAEEGVIRGLYKGLSMNWVKGPVAVGISFTTFDLTQI

Zebrafish                     MREIVAEEGIVRGLYKGLSMNWVKGPIAVGISFMTFDLTQI

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 1 – 318 Mitochondrial coenzyme A transporter SLC25A42
Repeat 224 – 312 Solcar 3


Literature citations

Mutation of the mitochondrial carrier SLC25A42 causes a novel form of mitochondrial myopathy in humans.
Shamseldin H.E.; Smith L.L.; Kentab A.; Alkhalidi H.; Summers B.; Alsedairy H.; Xiong Y.; Gupta V.A.; Alkuraya F.S.;
Hum. Genet. 135:21-30(2016)
Cited for: INVOLVEMENT IN MECREN; VARIANT MECREN ASP-291; CHARACTERIZATION OF VARIANT MECREN ASP-291;

Expanding the phenotype of SLC25A42-associated mitochondrial encephalomyopathy.
Almannai M.; Alasmari A.; Alqasmi A.; Faqeih E.; Al Mutairi F.; Alotaibi M.; Samman M.M.; Eyaid W.; Aljadhai Y.I.; Shamseldin H.E.; Craigen W.; Alkuraya F.S.;
Clin. Genet. 93:1097-1102(2018)
Cited for: INVOLVEMENT IN MECREN; VARIANT MECREN ASP-291;

Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S.; Alzahrani F.; Al-Owain M.; Al Muhaizea M.A.; Kayyali H.R.; AlHashem A.; Rahbeeni Z.; Al-Otaibi M.; Alzaidan H.I.; Balobaid A.; El Khashab H.Y.; Bubshait D.K.; Faden M.; Yamani S.A.; Dabbagh O.; Al-Mureikhi M.; Jasser A.A.; Alsaif H.S.; Alluhaydan I.; Seidahmed M.Z.; Alabbasi B.H.; Almogarri I.; Kurdi W.; Akleh H.; Qari A.; Al Tala S.M.; Alhomaidi S.; Kentab A.Y.; Salih M.A.; Chedrawi A.; Alameer S.; Tabarki B.; Shamseldin H.E.; Patel N.; Ibrahim N.; Abdulwahab F.; Samira M.; Goljan E.; Abouelhoda M.; Meyer B.F.; Hashem M.; Shaheen R.; AlShahwan S.; Alfadhel M.; Ben-Omran T.; Al-Qattan M.M.; Monies D.; Alkuraya F.S.;
Genet. Med. 21:736-742(2019)
Cited for: VARIANT MECREN ASP-291;

A homozygous splice site mutation in SLC25A42, encoding the mitochondrial transporter of coenzyme A, causes metabolic crises and epileptic encephalopathy.
Iuso A.; Alhaddad B.; Weigel C.; Kotzaeridou U.; Mastantuono E.; Schwarzmayr T.; Graf E.; Terrile C.; Prokisch H.; Strom T.M.; Hoffmann G.F.; Meitinger T.; Haack T.B.;
JIMD Rep. 44:1-7(2019)
Cited for: VARIANT MECREN ASP-291;

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.