UniProtKB/Swiss-Prot Q9H8Y5: Variant p.Glu152Lys

tRNA endonuclease ANKZF1
Gene: ANKZF1
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Variant information Variant position:

152 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 Glutamate (E) to Lysine (K) at position 152 (E152K, p.Glu152Lys). 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 acidic (E) to large size and basic (K) 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:

Found in a patient with infantile-onset inflammatory bowel disease; uncertain significance; decreased function in cellular response to hydrogen peroxide; does not affect protein abundance; does not affect interaction with VCP. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs149382949 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DSDSASEEDLQTLDRERATF E KLSRPPGFYPHRVLFQNAQG 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                         DSDSASEEDLQTLDRERATFEKLSRPPGFYPHRVLFQNAQG

Mouse                         DTDSSSEEDLLPLDEGRAESEKPNRPPGFYPHRVLFKNAQG

Rat                           DSDSASEEDLLTLDEERAESEKPNRPPGFYPHRVLFRNAQG

Bovine                        DSDSDSEEDLQILDEERADLEKPTRPQGFHPHRVLFQNAQG

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 – 726	tRNA endonuclease ANKZF1

Literature citations
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
van Haaften-Visser D.Y.; Harakalova M.; Mocholi E.; van Montfrans J.M.; Elkadri A.; Rieter E.; Fiedler K.; van Hasselt P.M.; Triffaux E.M.M.; van Haelst M.M.; Nijman I.J.; Kloosterman W.P.; Nieuwenhuis E.E.S.; Muise A.M.; Cuppen E.; Houwen R.H.J.; Coffer P.J.;
J. Biol. Chem. 292:7904-7920(2017)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH VPC; VARIANTS 32-VAL--GLN-87 DEL; LYS-152; GLN-585 AND PRO-638; CHARACTERIZATION OF VARIANTS LYS-152 AND GLN-585;

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.