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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P42356: Variant p.Tyr1937Cys

Phosphatidylinositol 4-kinase alpha
Gene: PI4KA
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Variant information Variant position: help 1937 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 Tyrosine (Y) to Cysteine (C) at position 1937 (Y1937C, p.Tyr1937Cys). 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 large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In NEDSPLB. Any additional useful information about the variant.


Sequence information Variant position: help 1937 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 2102 The length of the canonical sequence.
Location on the sequence: help YDYFTRQYGDESTLAFQQAR Y NFIRSMAAYSLLLFLLQIKD 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                         YDYFTRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKD

Mouse                         YDYFTRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKD

Rat                           YDYFTRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKD

Bovine                        YDYFTRQYGDESTLAFQQARYNFIRSMAAYSLLLFLLQIKD
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 1 – 2102 Phosphatidylinositol 4-kinase alpha
Domain 1808 – 2086 PI3K/PI4K catalytic
Mutagenesis 1957 – 1957 D -> A. Loss of kinase activity.
Helix 1930 – 1953



Literature citations
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
Salter C.G.; Cai Y.; Lo B.; Helman G.; Taylor H.; McCartney A.; Leslie J.S.; Accogli A.; Zara F.; Traverso M.; Fasham J.; Lees J.A.; Ferla M.P.; Chioza B.A.; Wenger O.; Scott E.; Cross H.E.; Crawford J.; Warshawsky I.; Keisling M.; Agamanolis D.; Ward Melver C.; Cox H.; Elawad M.; Marton T.; Wakeling M.N.; Holzinger D.; Tippelt S.; Munteanu M.; Valcheva D.; Deal C.; Van Meerbeke S.; Walsh Vockley C.; Butte M.J.; Acar U.; van der Knaap M.S.; Korenke G.C.; Kotzaeridou U.; Balla T.; Simons C.; Uhlig H.H.; Crosby A.H.; De Camilli P.; Wolf N.I.; Baple E.L.;
Brain 144:3597-3610(2021)
Cited for: VARIANTS NEDSPLB 566-ARG--TYR-2102 DEL; PRO-777; 1191-GLN--TYR-2102 DEL; TRP-1733; THR-1808; ASN-1854; GLU-1925 AND CYS-1937; VARIANT GIDID2 ASP-1623; CHARACTERIZATION OF VARIANT GIDID2 ASP-1623; INTERACTION WITH TTC7A; INVOLVEMENT IN NEDSPLB; INVOLVEMENT IN GIDID2; MUTAGENESIS OF ASP-1957;
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.