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:
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 HTGEKPHKCQVCGKAFSQSS NLITHSRKHTGFKPFGCDLCG
Mouse HTGEKPHKCQVCGKAFSQSS NLITHSRKHTGFKPFGCDLCG
Rat HTGEKPHKCQVCGKAFSQSS NLITHSRKHTGFKPFGCDLCG
Drosophila HTGEKPHKCTVCLKAFSQSS NLITHMRKHTGYKPFGCHLCD
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
1 – 422 Zinc finger protein Gfi-1
368 – 390 C2H2-type 5
A role of Miz-1 in Gfi-1-mediated transcriptional repression of CDKN1A.
Liu Q.; Basu S.; Qiu Y.; Tang F.; Dong F.;
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;
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