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UniProtKB/Swiss-Prot P47985: Variant p.Val14Asp

Cytochrome b-c1 complex subunit Rieske, mitochondrial
Gene: UQCRFS1
Variant information

Variant position:  14
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 Valine (V) to Aspartate (D) at position 14 (V14D, p.Val14Asp).
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 medium size and acidic (D)
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 MC3DN10; loss of localization to mitochondrial inner membrane; the mutant protein is distributed over the entire cytosol and in the nucleus.
Any additional useful information about the variant.

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



Sequence information

Variant position:  14
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  274
The length of the canonical sequence.

Location on the sequence:   MLSVASRSGPFAP  V LSATSRGVAGALRPLVQATV
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                         MLSVASRSGPFAPVLSATSRGVAGALRPLVQATV

Gorilla                       MLSVAARSGPFAPVLSATSRGVAGALRPLVQATV

Chimpanzee                    MLSVAARSGPFAPVLSATSRGVAGALRPLVQATV

Mouse                         MLSVAARSGPFAPVLSATSRGVAGALRPLLQGAV

Rat                           MLSVAARSGPFAPVLSATSRGVAGALRPLLQSAV

Bovine                        MLSVAARSGPFAPVLSATSRGVAGALRPLVQAAV

Chicken                       MLSVAARSGPFAPYLSAAAHAVPGPLKALAPAAL

Baker's yeast                 MLGI--------------RSSVKTCFKPMSLTSK

Fission yeast                 MLAK-----------QFISKSLASSLRRLLPVSS

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 – 78 Cytochrome b-c1 complex subunit 9
Beta strand 14 – 19


Literature citations

Bi-allelic UQCRFS1 variants are associated with mitochondrial complex III deficiency, cardiomyopathy, and alopecia totalis.
Gusic M.; Schottmann G.; Feichtinger R.G.; Du C.; Scholz C.; Wagner M.; Mayr J.A.; Lee C.Y.; Yepez V.A.; Lorenz N.; Morales-Gonzalez S.; Panneman D.M.; Roetig A.; Rodenburg R.J.T.; Wortmann S.B.; Prokisch H.; Schuelke M.;
Am. J. Hum. Genet. 106:102-111(2020)
Cited for: INVOLVEMENT IN MC3DN10; VARIANTS MC3DN10 ASP-14 AND 204-ARG--GLY-274 DEL; CHARACTERIZATION OF VARIANTS MC3DN10 ASP-14 AND 204-ARG--GLY-274 DEL; FUNCTION; SUBCELLULAR LOCATION;

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.