UniProtKB/Swiss-Prot Q9UGU0: Variant p.Ser16Thr

Transcription factor 20
Gene: TCF20
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Variant information Variant position:

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

LB/B 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 Serine (S) to Threonine (T) at position 16 (S16T, p.Ser16Thr). 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 small size and polar (S) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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

Sequence information Variant position:

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

1960 The length of the canonical sequence.
Location on the sequence:

MQSFREQSSYHGNQQ S YPQEVHGSSRLEEFSPRQAQ 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                         MQSFREQSSYHGNQQSYPQEVHGSSRLEEFSPRQAQ

Mouse                         MQSFREQSSYHGNQQSYPQEVHSSSRIEEFSPRQAQ

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 – 1960	Transcription factor 20
Region	1 – 287	Disordered
Compositional bias	1 – 22	Polar residues

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-430; SER-574; SER-583; SER-871; SER-1335; SER-1361; SER-1522; SER-1669 AND THR-1671; 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-871; SER-966; SER-1053; SER-1522 AND THR-1671; 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-1522 AND THR-1671; 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-538; SER-559; SER-574; SER-583; SER-640; SER-871; SER-1005; SER-1305; SER-1522 AND THR-1671; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C.; Lloyd D.; Pagnamenta A.T.; Twigg S.R.; Green J.; McGowan S.J.; Mirza G.; Naples R.; Sharma V.P.; Volpi E.V.; Buckle V.J.; Wall S.A.; Knight S.J.; Parr J.R.; Wilkie A.O.;
J. Med. Genet. 51:737-747(2014)
Cited for: INVOLVEMENT IN DDVIBA; VARIANTS DDVIBA GLU-512; LEU-1557; LEU-1937 AND HIS-1942; VARIANTS THR-16; GLN-322 DEL; VAL-405; GLY-722 AND ILE-1165;

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.