UniProtKB/Swiss-Prot Q8WVK2: Variant p.Ser114Phe

U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein
Gene: SNRNP27
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Variant information Variant position:

114 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 Phenylalanine (F) at position 114 (S114F, p.Ser114Phe). 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 large size and aromatic (F) 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

Sequence information Variant position:

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

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

EGKTEEEIEMMKLMGFASFD S TKGKKVDGSVNAYAINVSQK 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                         EGKTEEEIEMMKLMGFASFDSTKGKKVDGSVNAYAINVSQK

Mouse                         EGKTEEEIEMMKLMGFASFDSTKGKKVDGSVNAYAINVSQK

Xenopus laevis                EGKTEEEIEMMKLMGFASFDSSKGKKTDGSVNAYAINVSQK

Xenopus tropicalis            EGKTEEEIEMMKMMGFATFDTSKGKKVDGSVNAYAINVSQK

Zebrafish                     QGKTEEEIEMMKLMGFGSFETSKGKKKDGSIKAFAVNVSQK

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 – 155	U4/U6.U5 small nuclear ribonucleoprotein 27 kDa protein
Modified residue	111 – 111	Phosphoserine
Modified residue	114 – 114	Phosphoserine
Modified residue	132 – 132	Phosphoserine

Literature citations
The [U4/U6.U5] tri-snRNP-specific 27K protein is a novel SR protein that can be phosphorylated by the snRNP-associated protein kinase.
Fetzer S.; Lauber J.; Will C.L.; Luehrmann R.;
RNA 3:344-355(1997)
Cited for: PROTEIN SEQUENCE OF 108-110 AND 141-152; IDENTIFICATION BY MASS SPECTROMETRY; VARIANTS ILE-81 AND PHE-114; PHOSPHORYLATION;

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.