UniProtKB/Swiss-Prot Q6P1X5: Variant p.Ser447Thr

Transcription initiation factor TFIID subunit 2
Gene: TAF2
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Variant information Variant position:

447 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 447 (S447T, p.Ser447Thr). 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
Other resources:

Links to websites of interest for the variant.

Variant rs9297605 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1199 The length of the canonical sequence.
Location on the sequence:

PASHLHFSIKHPHTLSWEYY S MFQCKAHLVMRLIENRISME 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                         PASHL-----------HFSIKHPHTLSWEYYSMFQCKAHLVMRLIENRISME

Mouse                         PASHL-----------HFSIKHPHTLSWEYYTMFQCKAHLV

Chicken                       PASHL-----------HFSIKHPHTLSWEYYTMFQCKAHLV

Zebrafish                     PTPHL-----------HFSIKHPHTLSWEYYKMFQCKAHLV

Caenorhabditis elegans        ----------------HVDPRHEYTASPLYVEAMLKKGFLT

Drosophila                    GTNQSAASSKQQEIVHYFPIKSLHTVSPKYVEAMRRKAHFV

Baker's yeast                 WSSKD---------LSFIQLKAPMILHILDRRMTKTERSFG

Fission yeast                 PNTLD-----------FIALKSPLVIHILERRLTKTGGSLG

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 – 1199	Transcription initiation factor TFIID subunit 2
Helix	443 – 463

Literature citations
CIF150, a human cofactor for transcription factor IID-dependent initiator function.
Kaufmann J.; Ahrens K.; Koop R.; Smale S.T.; Muller R.;
Mol. Cell. Biol. 18:233-239(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-447; FUNCTION; INTERACTION WITH TAF2C1; Novel cofactors and TFIIA mediate functional core promoter selectivity by the human TAFII150-containing TFIID complex.
Martinez E.; Ge H.; Tao Y.; Yuan C.-X.; Palhan V.; Roeder R.G.;
Mol. Cell. Biol. 18:6571-6583(1998)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-447; FUNCTION; SUBCELLULAR LOCATION; IDENTIFICATION IN THE TFIID COMPLEX; TISSUE SPECIFICITY; Human TBP-associated factor (TAFII150).
Guermah M.; Roeder R.G.R.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT THR-447; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 1-604; VARIANT THR-447;

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.