UniProtKB/Swiss-Prot O43623: Variant p.Asp119Glu

Zinc finger protein SNAI2
Gene: SNAI2
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Variant information Variant position:

119 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 Aspartate (D) to Glutamate (E) at position 119 (D119E, p.Asp119Glu). 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:

Similar physico-chemical property. Both residues are medium size and acidic. 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:

In a patient with neural tube defects. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs748917911 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

HSGSESPISDEEERLQSKLS D PHAIEAEKFQCNLCNKTYST 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                         HSGSESPISDEEERLQSKLSDPHAIEAEKFQCNLCNKTYST

Mouse                         HSGSESPISDEEERLQPKLSDPHAIEAEKFQCNLCNKTYST

Rat                           HSGSESPISDEEERLQPKLSDPHAIEAEKFQCNLCNKTYST

Bovine                        HSGSESPISDEEERLQSKLSDPHAIEAEKFQCNLCNKTYST

Xenopus laevis                HSGSESPISDEEERLQTKLSDSHAIEAEKFQCSLCSKTYST

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 – 268	Zinc finger protein SNAI2
Mutagenesis	100 – 100	S -> A. Increases protein stability and half-life, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-104.
Mutagenesis	104 – 104	S -> A. Increases protein stability and half-life, nuclear accumulation and repressor activity on E-cadherin/CDH1 promoter; when associated with A-100.

Literature citations
Human transcription factor SLUG: mutation analysis in patients with neural tube defects and identification of a missense mutation (D119E) in the Slug subfamily-defining region.
Stegmann K.; Boecker J.; Kosan C.; Ermert A.; Kunz J.; Koch M.C.;
Mutat. Res. 406:63-69(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLU-119;

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.