Variant position: 51 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 318 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 KKNDKEAAGEGPALYEDPPD QKTSPSGKPATLKICSWNVDG
Gorilla KKNDKEAAGEGPALYEDPPD QKTSPSGKPATLKICSWNVDG
Chimpanzee KKNDKEAAGEGPALYEDPPD QKTSPSGKPATLKICSWNVDG
Mouse KKTEKEAAGEGPVLYEDPPD QKTSPSGKSATLKICSWNVDG
Rat KKTEKEAAGEGPVLYEDPPD QKTSASGKSATLKICSWNVDG
Bovine KKNEKEAVGEGAVLYEDPPD QKTSPSGKSATLKICSWNVDG
Zebrafish KKEKKGKEPEAPILYEDPPE KLTSKDGRAANMKITSWNVDG
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
2 – 318 DNA-(apurinic or apyrimidinic site) lyase
32 – 318 DNA-(apurinic or apyrimidinic site) lyase, mitochondrial
70 – 70 Magnesium 1
31 – 31 N6-acetyllysine
32 – 32 N6-acetyllysine
35 – 35 N6-acetyllysine
54 – 54 Phosphoserine
65 – 65 S-nitrosocysteine; alternate
31 – 31 K -> A. Enhances the interaction with TOMM20. Does not inhibit redox and AP endodeoyribonuclease activities. Inhibits rRNA binding, interaction with NPM1, nuclear localization and modulates its endodeoxyribonuclease activity; when associated with A-24; A-25; A-27 and A-32. Reduces protection from granzyme A-mediated cell death; when associated with A-65 and A-210.
32 – 32 K -> A. Inhibits rRNA binding, interaction with NPM1, nuclear localization and modulates its endodeoxyribonuclease activity; when associated with A-24; A-25; A-27 and A-31.
65 – 65 C -> A. Abolishes the redox activity. Does not abolish the AP endodeoxyribonuclease and phosphodiesterase activities. Reduces protection from granzyme A-mediated cell death; when associated with A-31 and A-210.
65 – 65 C -> S. Does not abolish NO-induced nitrosylation. Enhances NO-induced nuclear export.
68 – 68 N -> A. Nearly abolishes AP endodeoxyribonuclease activity.
70 – 70 D -> A. Strongly reduces AP endodeoxyribonuclease activity.
NIEHS SNPs program;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS HIS-51; VAL-64 AND GLU-148;
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