UniProtKB/Swiss-Prot Q8WWQ0: Variant p.Phe17Ser

PH-interacting protein
Gene: PHIP
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Variant information Variant position:

17 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 Phenylalanine (F) to Serine (S) at position 17 (F17S, p.Phe17Ser). 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 large size and aromatic (F) to small size and polar (S) 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
Variant description:

In CHUJANS; uncertain significance. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs878854420 [ dbSNP | Ensembl ]

Sequence information Variant position:

17 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1821 The length of the canonical sequence.
Location on the sequence:

MSCERKGLSELRSELY F LIARFLEDGPCQQAAQVLIR 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                         MSCERKGLSELRSELYFLIARFLEDGPCQQAAQVLIR

Mouse                         MSRERKGLSELRSELYFLIARFLEDGPCQQAAQVLIR

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	1 – 1821	PH-interacting protein

Literature citations
A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-136; SER-1281; SER-1283; SER-1296; SER-1405; SER-1479 AND SER-1783; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions.
Mayya V.; Lundgren D.H.; Hwang S.-I.; Rezaul K.; Wu L.; Eng J.K.; Rodionov V.; Han D.K.;
Sci. Signal. 2:RA46-RA46(2009)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-1281; SER-1283; SER-1315 AND SER-1783; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis.
Olsen J.V.; Vermeulen M.; Santamaria A.; Kumar C.; Miller M.L.; Jensen L.J.; Gnad F.; Cox J.; Jensen T.S.; Nigg E.A.; Brunak S.; Mann M.;
Sci. Signal. 3:RA3-RA3(2010)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-641; SER-659; SER-692; SER-911; SER-1315; THR-1359; SER-1405; SER-1525; SER-1651; SER-1762 AND SER-1783; VARIANT [LARGE SCALE ANALYSIS] GLY-663; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation.
Rigbolt K.T.; Prokhorova T.A.; Akimov V.; Henningsen J.; Johansen P.T.; Kratchmarova I.; Kassem M.; Mann M.; Olsen J.V.; Blagoev B.;
Sci. Signal. 4:RS3-RS3(2011)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-683; SER-692; SER-879; SER-880; SER-881; SER-911; SER-1315 AND SER-1783; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Toward a comprehensive characterization of a human cancer cell phosphoproteome.
Zhou H.; Di Palma S.; Preisinger C.; Peng M.; Polat A.N.; Heck A.J.; Mohammed S.;
J. Proteome Res. 12:260-271(2013)
Cited for: PHOSPHORYLATION [LARGE SCALE ANALYSIS] AT SER-674; SER-677; SER-683; SER-911; SER-1281; SER-1283; SER-1315; SER-1525; SER-1560; SER-1762 AND SER-1783; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; De novo PHIP-predicted deleterious variants are associated with developmental delay, intellectual disability, obesity, and dysmorphic features.
Webster E.; Cho M.T.; Alexander N.; Desai S.; Naidu S.; Bekheirnia M.R.; Lewis A.; Retterer K.; Juusola J.; Chung W.K.;
Cold Spring Harb. Mol. Case Stud. 2:A001172-A001172(2016)
Cited for: INVOLVEMENT IN CHUJANS; VARIANT CHUJANS SER-17;

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.