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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y276: Variant p.Arg144Gln

Mitochondrial chaperone BCS1
Gene: BCS1L
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Variant information Variant position: help 144 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 Arginine (R) to Glutamine (Q) at position 144 (R144Q, p.Arg144Gln). 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 Change from large size and basic (R) to medium size and polar (Q) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In GRACILE. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 144 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 419 The length of the canonical sequence.
Location on the sequence: help IDLQTGTPWESVTFTALGTD R KVFFNILEEARELALQQEEG 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                         IDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEG

Mouse                         VDLQTGTPWESVTFTALGTDRKVFFNILEEARALALQQEEG

Bovine                        IDLQTGTPWESVTFTALGTDRKVFFNILEEARELALQQEEG

Xenopus laevis                IDLHTGTPWESVTFTALGTNRNIFFNILQEARELALKQQVG

Zebrafish                     MDLHTGTPWESVTFTALGRDRQTFFNILQEARELALKQEEG

Baker's yeast                 IDIANGSPFETVTLTTLYRDKHLFDDILNEAKDIALKTTEG

Fission yeast                 QDLTTGTPWETITLTTLSRDRGIFSELLLEAQKFMQSAQKN
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 2 – 419 Mitochondrial chaperone BCS1
Topological domain 33 – 419 Mitochondrial matrix



Literature citations
GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L.
Visapaeae I.; Fellman V.; Vesa J.; Dasvarma A.; Hutton J.L.; Kumar V.; Payne G.S.; Makarow M.; Van Coster R.; Taylor R.W.; Turnbull D.M.; Suomalainen A.; Peltonen L.;
Am. J. Hum. Genet. 71:863-876(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA]; VARIANTS GRACILE GLY-78; GLN-144 AND ALA-327; Missense mutations in the BCS1L gene as a cause of the Bjoernstad syndrome.
Hinson J.T.; Fantin V.R.; Schoenberger J.; Breivik N.; Siem G.; McDonough B.; Sharma P.; Keogh I.; Godinho R.; Santos F.; Esparza A.; Nicolau Y.; Selvaag E.; Cohen B.H.; Hoppel C.L.; Tranebjaerg L.; Eavey R.D.; Seidman J.G.; Seidman C.E.;
N. Engl. J. Med. 356:809-819(2007)
Cited for: VARIANTS BJS ARG-35; TRP-114; HIS-183; CYS-184; GLU-302 AND HIS-306; VARIANTS MC3DN1 LEU-99; PRO-155; ASN-277 AND MET-353; VARIANTS GRACILE GLY-78; GLN-144 AND ALA-327;
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.