UniProtKB/Swiss-Prot Q6P179: Variant p.Lys392Asn

Endoplasmic reticulum aminopeptidase 2
Gene: ERAP2
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Variant information Variant position:

392 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 Lysine (K) to Asparagine (N) at position 392 (K392N, p.Lys392Asn). 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 large size and basic (K) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Other resources:

Links to websites of interest for the variant.

Variant rs2549782 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LAHQWFGNLVTMEWWNDIWL K EGFAKYMELIAVNATYPELQ 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                         LAHQWFGNLVTMEWWNDIWLKEGFAKYMELIAVNATYPELQ

Bovine                        LAHQWFGNLVTMEWWNDIWLNEGFARYMELISLNITYPELQ

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 – 960	Endoplasmic reticulum aminopeptidase 2
Topological domain	41 – 960	Lumenal
Binding site	374 – 374
Binding site	393 – 393
Glycosylation	405 – 405	N-linked (GlcNAc...) asparagine
Alternative sequence	351 – 960	Missing. In isoform 4.
Helix	390 – 407

Literature citations
Human leukocyte-derived arginine aminopeptidase. The third member of the oxytocinase subfamily of aminopeptidases.
Tanioka T.; Hattori A.; Masuda S.; Nomura Y.; Nakayama H.; Mizutani S.; Tsujimoto M.;
J. Biol. Chem. 278:32275-32283(2003)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; ENZYME ACTIVITY; SUBCELLULAR LOCATION; GLYCOSYLATION; TOPOLOGY; TISSUE SPECIFICITY; VARIANT ASN-392; Regulation of the human leukocyte-derived arginine aminopeptidase/endoplasmic reticulum-aminopeptidase 2 gene by interferon-gamma.
Tanioka T.; Hattori A.; Mizutani S.; Tsujimoto M.;
FEBS J. 272:916-928(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); INDUCTION BY IFNG; VARIANT ASN-392;

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.