UniProtKB/Swiss-Prot P63104: Variant p.Ser145Leu

14-3-3 protein zeta/delta
Gene: YWHAZ
Feedback?

Variant information Variant position:

145 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 Serine (S) to Leucine (L) at position 145 (S145L, p.Ser145Leu). 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 hydrophobic (L) 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:

Found in a patient with a neurodevelopmental disorder; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

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

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

YYRYLAEVAAGDDKKGIVDQ S QQAYQEAFEISKKEMQPTHP 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                         YYRYLAEVAAGDDKKGIVDQSQQAYQEAFEISKKEMQPTHP

Mouse                         YYRYLAEVAAGDDKKGIVDQSQQAYQEAFEISKKEMQPTHP

Rat                           YYRYLAEVAAGDDKKGIVDQSQQAYQEAFEISKKEMQPTHP

Bovine                        YYRYLAEVAAGDDKKGIVDQSQQAYQEAFEISKKEMQPTHP

Sheep                         YYRYLAEVAAGDDKKGIVDQSQQAYQEAFEISKKEMQPTHP

Chicken                       YYRYLAEVAAGDDKKGIVEQSQQAYQEAFEISKKEMQPTHP

Xenopus laevis                YYRYLAEVAAGNAKTEIVGQSQKAYQDAFDISKTEMQPTHP

Xenopus tropicalis            YYRYLAEVASGDAKADIVAQSQKAYQDAFDISKTEMQPTHP

Drosophila                    YYRYLAEVATGDARNTVVDDSQTAYQDAFDISKGKMQPTHP

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 – 245	14-3-3 protein zeta/delta
Site	127 – 127	Interaction with phosphoserine on interacting protein
Helix	135 – 159

Literature citations
A YWHAZ variant associated with cardiofaciocutaneous syndrome activates the RAF-ERK pathway.
Popov I.K.; Hiatt S.M.; Whalen S.; Keren B.; Ruivenkamp C.; van Haeringen A.; Chen M.J.; Cooper G.M.; Korf B.R.; Chang C.;
Front. Physiol. 10:388-388(2019)
Cited for: VARIANTS 14-GLU--ASN-245 DEL; ARG-53; LEU-145 AND TRP-230; CHARACTERIZATION OF VARIANT TRP-230; FUNCTION; INTERACTION WITH BRAF AND RAF1; PHOSPHORYLATION AT THR-232 BY CK1; MUTAGENESIS OF THR-232;

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.