UniProtKB/Swiss-Prot P23434: Variant p.His57Arg

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

57 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Histidine (H) to Arginine (R) at position 57 (H57R, p.His57Arg). 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 medium size and polar (H) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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 MMDS7; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

57 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:

AVRTLRTGPALLSVRKFTEK H EWVTTENGIGTVGISNFAQE 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                         AVRTLR-TGPALLSVR-----KFTEKHEWVTTENGIGT-VGISNFAQE

Mouse                         AVRSLR-TGSALLSVR-----KFTEKHEWITTEEGIGT-VG

Rat                           AVRSLR-TGSALLSVR-----KFTEKHEWVTAKDGIGT-VG

Bovine                        AVRELR-TGPALLSVR-----KFTEKHEWVTTENGVGT-VG

Rabbit                        AVRTLR-TGPALLSVR-----KFTEKHEWITTENGIGT-VG

Chicken                       AVRRLG-TGSLLLSAR-----KFTDKHEWISVENGIGT-VG

Drosophila                    QARAIH-LTSLLAKER-----RYTNKHEWVEVVSGSNAIVG

Baker's yeast                 NALNKN-KLPFLYSSQGPQAVRYTSQHEWIAVHQDKTAFVG

Fission yeast                 PTLSMKWSAVKYYSTK-----HFTKEHEWVKVDGDVGT-VG

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.

Type	Positions	Description
Chain	49 – 173	Glycine cleavage system H protein, mitochondrial

Literature citations
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency.
Arribas-Carreira L.; Dallabona C.; Swanson M.A.; Farris J.; Oestergaard E.; Tsiakas K.; Hempel M.; Aquaviva-Bourdain C.; Koutsoukos S.; Stence N.V.; Magistrati M.; Spector E.B.; Kronquist K.; Christensen M.; Karstensen H.G.; Feichtinger R.G.; Achleitner M.T.; Lawrence Merritt Ii J.; Perez B.; Ugarte M.; Gruenewald S.; Riela A.R.; Julve N.; Arnoux J.B.; Haldar K.; Donnini C.; Santer R.; Lund A.M.; Mayr J.A.; Rodriguez-Pombo P.; Van Hove J.L.K.;
Hum. Mol. Genet. 32:917-933(2023)
Cited for: VARIANTS MMDS7 ARG-57; 76-GLN--GLU-173 DEL; LEU-115 AND PRO-148; CHARACTERIZATION OF VARIANTS MMDS7 LEU-115 AND PRO-148; INVOLVEMENT IN MMDS7; FUNCTION; SUBCELLULAR LOCATION;

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.