Home  |  Contact

UniProtKB/Swiss-Prot Q9H0U6: Variant p.Arg6Gln

39S ribosomal protein L18, mitochondrial
Gene: MRPL18
Variant information

Variant position:  6
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LB/B
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 Arginine (R) to Glutamine (Q) at position 6 (R6Q, p.Arg6Gln).
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 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:  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

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

Sequence information

Variant position:  6
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  180
The length of the canonical sequence.

Location on the sequence:   MALRS  R FWGLFSVCRNPGCRFAALST
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                         MALRSRFWGLFSVCRNPGCRFAALST

Mouse                         MALRPRFWKCLSVCRKLECGFAALST

Bovine                        MALRSRSWELLPVCRNPGCRVAAFST

Caenorhabditis elegans        MAAR----------------------

Literature citations

Cloning and functional analysis of cDNAs with open reading frames for 300 previously undefined genes expressed in CD34+ hematopoietic stem/progenitor cells.
Zhang Q.-H.; Ye M.; Wu X.-Y.; Ren S.-X.; Zhao M.; Zhao C.-J.; Fu G.; Shen Y.; Fan H.-Y.; Lu G.; Zhong M.; Xu X.-R.; Han Z.-G.; Zhang J.-W.; Tao J.; Huang Q.-H.; Zhou J.; Hu G.-X.; Gu J.; Chen S.-J.; Chen Z.;
Genome Res. 10:1546-1560(2000)

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.