Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8WWQ0: Variant p.Gln1263Glu

PH-interacting protein
Gene: PHIP
Feedback?
Variant information Variant position: help 1263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Glutamine (Q) to Glutamate (E) at position 1263 (Q1263E, p.Gln1263Glu). 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 medium size and polar (Q) to medium size and acidic (E) 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 CHUJANS; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 1263 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1821 The length of the canonical sequence.
Location on the sequence: help SPIVKSAKFVTDLLLHFIKD Q TCYNIIPLYNSMKKKVLSDS 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                         SPIVKSAKFVTDLLLHFIKDQTCYNIIPLYNSMKKKVLSDS

Mouse                         SPIVKSAKFVTDLLLHFIKDQTCYNIIPLYNSMKKKVLSDS

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 – 1821 PH-interacting protein
Modified residue 1281 – 1281 Phosphoserine
Modified residue 1283 – 1283 Phosphoserine



Literature citations
A genotype-first approach identifies an intellectual disability-overweight syndrome caused by PHIP haploinsufficiency.
Jansen S.; Hoischen A.; Coe B.P.; Carvill G.L.; Van Esch H.; Bosch D.G.M.; Andersen U.A.; Baker C.; Bauters M.; Bernier R.A.; van Bon B.W.; Claahsen-van der Grinten H.L.; Gecz J.; Gilissen C.; Grillo L.; Hackett A.; Kleefstra T.; Koolen D.; Kvarnung M.; Larsen M.J.; Marcelis C.; McKenzie F.; Monin M.L.; Nava C.; Schuurs-Hoeijmakers J.H.; Pfundt R.; Steehouwer M.; Stevens S.J.C.; Stumpel C.T.; Vansenne F.; Vinci M.; van de Vorst M.; Vries P.; Witherspoon K.; Veltman J.A.; Brunner H.G.; Mefford H.C.; Romano C.; Vissers L.E.L.M.; Eichler E.E.; de Vries B.B.A.;
Eur. J. Hum. Genet. 26:54-63(2018)
Cited for: INVOLVEMENT IN CHUJANS; VARIANTS CHUJANS CYS-110; SER-110; 274-GLN--TRP-1821 DEL; 555-GLN--TRP-1821 DEL; 634-GLN--TRP-1821 DEL; 968-ARG--TRP-1821 DEL; 1149-TYR--TRP-1821 DEL; 1191-GLN--TRP-1821 DEL; GLU-1263; 1298-ARG--TRP-1821 DEL AND 1354-ARG--TRP-1821 DEL;
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.