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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y375: Variant p.Lys253Arg

Complex I intermediate-associated protein 30, mitochondrial
Gene: NDUFAF1
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Variant information Variant position: help 253 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Lysine (K) to Arginine (R) at position 253 (K253R, p.Lys253Arg). 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: help Similar physico-chemical property. Both residues are large size and basic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In MC1DN11; due to a nucleotide substitution located in the splice site consensus sequence at the end of exon 3; patient cells contain normally spliced transcripts corresponding to protein variant R-253 but also transcripts lacking the final 6 base pairs of exon 3 and corresponding to protein variant 252-VK-253 del. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 253 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 327 The length of the canonical sequence.
Location on the sequence: help TNQMYSYFMFTRGGPYWQEV K IPFSKFFFSNRGRIRDVQHE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         TNQMYSYFMFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHE

Gorilla                       TNQMYSYFMFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHE

Chimpanzee                    TNQMYSYFMFTRGGPYWQEVKIPFSKFFFSNRGRIRDVQHE

Mouse                         KNQMYSYFMFTRGGPYWQEVKIPFSKFFFSNQGRVRDVQGP

Caenorhabditis elegans        WGDSFSHPLHTHGGPYWQYEKIPFSKFFHTVAGRIQDRQYR

Drosophila                    WNDIYHYVLYTRGGPHWQIAKIPFSKFFLSSKGRVQDRQGA
Sequence annotation in neighborhood: help 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 25 – 327 Complex I intermediate-associated protein 30, mitochondrial



Literature citations
Human CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause disease.
Dunning C.J.; McKenzie M.; Sugiana C.; Lazarou M.; Silke J.; Connelly A.; Fletcher J.M.; Kirby D.M.; Thorburn D.R.; Ryan M.T.;
EMBO J. 26:3227-3237(2007)
Cited for: FUNCTION; SUBCELLULAR LOCATION; SUBUNIT; INVOLVEMENT IN MC1DN11; VARIANTS MC1DN11 PRO-207; 252-VAL-LYS-253 DEL AND ARG-253;
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.