Home  |  Contact

UniProtKB/Swiss-Prot Q9HA77: Variant p.Pro251Leu

Probable cysteine--tRNA ligase, mitochondrial
Gene: CARS2
Variant information

Variant position:  251
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 Proline (P) to Leucine (L) at position 251 (P251L, p.Pro251Leu).
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:  Similar physico-chemical property. Both residues are medium size and hydrophobic.
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 COXPD27.
Any additional useful information about the variant.

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



Sequence information

Variant position:  251
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  564
The length of the canonical sequence.

Location on the sequence:   LWKAAKPQEVFWASPWGPGR  P GWHIECSAIASMVFGSQLDI
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                         LWKA--------AKPQEVFWASPWGPGRPGWHIECSAIASMVFGSQLDI

Mouse                         LWKA--------AKPQEVFWASPWGDGRPGWHIECSTMASE

Bovine                        LWKA--------AKPQEPFWGSPWGDGRPGWHIECSTIASL

Xenopus laevis                LWKT--------SKPEEPYWASPWGKGRPGWHIECSTIASS

Xenopus tropicalis            LWKT--------SKPEEPYWASPWGKGRPGWHIECSTIASS

Slime mold                    LWKAYNENIDIDGTGNPVCWDSPFGKGRPGWHIECSAMIDS

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
Metal binding 257 – 257 Zinc


Literature citations

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder.
Coughlin C.R. II; Scharer G.H.; Friederich M.W.; Yu H.C.; Geiger E.A.; Creadon-Swindell G.; Collins A.E.; Vanlander A.V.; Coster R.V.; Powell C.A.; Swanson M.A.; Minczuk M.; Van Hove J.L.; Shaikh T.H.;
J. Med. Genet. 52:532-540(2015)
Cited for: INVOLVEMENT IN COXPD27; VARIANTS COXPD27 GLU-217 DEL AND LEU-251;

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.