UniProtKB/SwissProt variant VAR

Variant information

Variant position:

11

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 Glycine (G) at position 11 (S11G, p.Ser11Gly).

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 glycine (G)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

0

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 rs17850527 [ dbSNP | Ensembl ]

Sequence information

Variant position:

11

The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:

127

The length of the canonical sequence.

Location on the sequence:

MPKSKELVSS S SSGSDSDSEVDKKLKRKKQV

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                         MPKSKELVSSSSSGSDSDSEVDKKLKRKKQV

Mouse                         MPKSKELVSSSSSGSDSDSEVEKKLKRKKQA

Rat                           MPKSKELVSSSSSGSDSDSEVEKKLKRKKQV

Chicken                       MPKSKELVSSSSSASDSDSEVDKKAKRKKQA

Caenorhabditis elegans        ----------MSSSSSSEDELEKKVTKEQKK

Drosophila                    MPKTKK----KDSSSDSDSGPDDRIKPASKK

Fission yeast                 -------------------MAGKRVIASGDK

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
Initiator methionine	1 – 1	Removed
Chain	2 – 127	Activated RNA polymerase II transcriptional coactivator p15
Region	2 – 50	Regulatory
Compositional bias	4 – 19	Ser-rich
Modified residue	4 – 4	Phosphoserine
Modified residue	9 – 9	Phosphoserine
Modified residue	10 – 10	Phosphoserine
Modified residue	11 – 11	Phosphoserine
Modified residue	13 – 13	Phosphoserine
Modified residue	15 – 15	Phosphoserine
Modified residue	17 – 17	Phosphoserine
Modified residue	19 – 19	Phosphoserine

Literature citations

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]; VARIANT GLY-11;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P53999: Variant p.Ser11Gly