UniProtKB/SwissProt variant VAR

Variant information

Variant position:

382

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

Type of variant:

LP/P [Disclaimer]

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 Asparagine (N) to Serine (S) at position 382 (N382S, p.Asn382Ser).

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 medium size and polar (N) to small size and polar (S)

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

Variant description:

In SCN2; zero neutrophil count. marked monocytosis and reduced T- and B-lymphocyte number leading to recurrent infectious complications. Abolishes recognition of DNA binding site of zinc finger. Diminished repression activity and elevated ELA2 expression. No effect on repression of CDKN1A/p21 transcription.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs28936381 [ dbSNP | Ensembl ]

Sequence information

Variant position:

382

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

Protein sequence length:

422

The length of the canonical sequence.

Location on the sequence:

HTGEKPHKCQVCGKAFSQSS N LITHSRKHTGFKPFGCDLCG

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                         HTGEKPHKCQVCGKAFSQSSNLITHSRKHTGFKPFGCDLCG

                              HTGEKPHKCQVCGKAFSQSSNLITHSRKHTGFKPFGCDLCG

Mouse                         HTGEKPHKCQVCGKAFSQSSNLITHSRKHTGFKPFGCDLCG

Rat                           HTGEKPHKCQVCGKAFSQSSNLITHSRKHTGFKPFGCDLCG

Drosophila                    HTGEKPHKCTVCLKAFSQSSNLITHMRKHTGYKPFGCHLCD

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 – 422	Zinc finger protein Gfi-1
Zinc finger	368 – 390	C2H2-type 5

Literature citations

A role of Miz-1 in Gfi-1-mediated transcriptional repression of CDKN1A.
Liu Q.; Basu S.; Qiu Y.; Tang F.; Dong F.;
Oncogene 29:2843-2852(2010)
Cited for: INTERACTION WITH ZBTB17; FUNCTION; INDUCTION; CHARACTERIZATION OF VARIANT SER-382;

Mutations in proto-oncogene GFI1 cause human neutropenia and target ELA2.
Person R.E.; Li F.-Q.; Duan Z.; Benson K.F.; Wechsler J.; Papadaki H.A.; Eliopoulos G.; Kaufman C.; Bertolone S.J.; Nakamoto B.; Papayannopoulou T.; Grimes H.L.; Horwitz M.;
Nat. Genet. 34:308-312(2003)
Cited for: VARIANT NI-CINA ARG-403; VARIANT SCN2 SER-382; CHARACTERIZATION OF VARIANTS NI-CINA ARG-403 AND SCN2 SER-382; FUNCTION;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99684: Variant p.Asn382Ser