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UniProtKB/Swiss-Prot P23434: Variant p.Ser21Leu

Glycine cleavage system H protein, mitochondrial
Gene: GCSH
Variant information

Variant position:  21
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 Serine (S) to Leucine (L) at position 21 (S21L, p.Ser21Leu).
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 small size and polar (S) to medium size and hydrophobic (L)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

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



Sequence information

Variant position:  21
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  173
The length of the canonical sequence.

Location on the sequence:   MALRVVRSVRALLCTLRAVP  S PAAPCPPRPWQLGVGAVRTL
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                         MALRVVRSVRALLCTLRAVPSPAAPCPPRPWQLGVGAVRTL

Mouse                         MSLQVSRSLRVVAYSLRTA---LTFCSPRPCVPSAAAVRSL

Rat                           MSLRVVRSVRAVACSLRIA---LASCPPRPWAPSAAAVRSL

Bovine                        MALRAVRSVRAAVGGLRAISAPSAPCLPRPWGLRAGAVREL

Rabbit                        MALRVVRSLRAAACSLFAASAPAAPCSPLPWRLRAGAVRTL

Chicken                       MAWLVLRRLGPVL---------APRCPRLSLRPQVPAVRRL

Drosophila                    -MVFITKFARIGLQAAR-----QLSVTPL----GAVQARAI

Baker's yeast                 -MLRTTR-----LWTTR-----MPTVSKLFLRNSSGNALNK

Fission yeast                 --MLARSALRSGFLPSL-----TSSVKTGFCLKAAAPTLSM

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
Transit peptide 1 – 48 Mitochondrion


Literature citations

The glycine cleavage system: structure of a cDNA encoding human H-protein, and partial characterization of its gene in patients with hyperglycinemias.
Koyata H.; Hiraga K.;
Am. J. Hum. Genet. 48:351-361(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; VARIANT LEU-21; LIPOYLATION AT LYS-107; COFACTOR;

The primary structure of human H-protein of the glycine cleavage system deduced by cDNA cloning.
Fujiwara K.; Okamura-Ikeda K.; Hayasaka K.; Motokawa Y.;
Biochem. Biophys. Res. Commun. 176:711-716(1991)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LEU-21;

Submission
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-21 AND SER-73;

The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT LEU-21;

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.