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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92643: Variant p.Ala87Val

GPI-anchor transamidase
Gene: PIGK
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Variant information Variant position: help 87 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 Alanine (A) to Valine (V) at position 87 (A87V, p.Ala87Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In NEDHCAS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 87 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 395 The length of the canonical sequence.
Location on the sequence: help SVYRSVKRLGIPDSHIVLML A DDMACNPRNPKPATVFSHKN 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                         SVYRSVKRLGIPDSHIVLMLADDMACNPRNPKPATVFSHKN

Mouse                         SVYRSVKRLGIPDSHIVLMLADDMACNARNPKPATVFSHKN

Pig                           SVYRSVKRLGIPDSHIVLMLADDMACNPRNPKPATVYSHKN

Bovine                        SVYRSVKRLGIPDSHIVLMLADDMACNPRNPKPATVYSHKN

Caenorhabditis elegans        ALYHSIKRLGIPDSNIIMMLAEDVPCNSRNPRPGTVYAARA

Drosophila                    SIYRSVKRLGIPDSQIILMIADDMACNARNPRPGQVYNNAN

Baker's yeast                 SMYRTVKRLGIPDSQIILMLSDDVACNSRNLFPGSVFNNKD

Fission yeast                 GIYRSVKRLGIPDSQIILMIADDYACNSRNLFPGTVFDNAD
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 28 – 395 GPI-anchor transamidase
Topological domain 28 – 368 Lumenal
Binding site 79 – 79
Binding site 82 – 82
Disulfide bond 92 – 92 Interchain (with C-182 in PIGT)
Alternative sequence 50 – 125 Missing. In isoform 2.
Mutagenesis 74 – 74 R -> A. No effect on function in GPI-anchor attachment to protein.
Mutagenesis 79 – 79 D -> A. No effect on function in GPI-anchor attachment to protein.
Mutagenesis 92 – 92 C -> A. Decreased function in GPI-anchor attachment to protein. Decreases GPI-anchor transamidase activity by approximately 40%.
Mutagenesis 92 – 92 C -> S. Decreased function in GPI-anchor attachment to protein.
Beta strand 82 – 88



Literature citations
Bi-allelic variants in the GPI transamidase subunit PIGK cause a neurodevelopmental syndrome with hypotonia, cerebellar atrophy, and epilepsy.
Nguyen T.T.M.; Murakami Y.; Mobilio S.; Niceta M.; Zampino G.; Philippe C.; Moutton S.; Zaki M.S.; James K.N.; Musaev D.; Mu W.; Baranano K.; Nance J.R.; Rosenfeld J.A.; Braverman N.; Ciolfi A.; Millan F.; Person R.E.; Bruel A.L.; Thauvin-Robinet C.; Ververi A.; DeVile C.; Male A.; Efthymiou S.; Maroofian R.; Houlden H.; Maqbool S.; Rahman F.; Baratang N.V.; Rousseau J.; St-Denis A.; Elrick M.J.; Anselm I.; Rodan L.H.; Tartaglia M.; Gleeson J.; Kinoshita T.; Campeau P.M.;
Am. J. Hum. Genet. 106:484-495(2020)
Cited for: INVOLVEMENT IN NEDHCAS; VARIANTS NEDHCAS 33-GLN--PHE-395 DEL; PHE-53; PRO-86; VAL-87; ASN-88; SER-160; VAL-184; LYS-246 AND ARG-275;
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.