UniProtKB/Swiss-Prot P00558: Variant p.Asp268Asn

Phosphoglycerate kinase 1
Gene: PGK1
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Variant information Variant position:

268 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 Aspartate (D) to Asparagine (N) at position 268 (D268N, p.Asp268Asn). 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 (D) to medium size and polar (N) 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 Munchen; 21% of activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs137852528 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

LNNMEIGTSLFDEEGAKIVK D LMSKAEKNGVKITLPVDFVT 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                         LNNMEIGTSLFDEEGAKIVKDLMSKAEKNGVKITLPVDFVT

Chimpanzee                    LNNMEIGTSLFDEEGAKIVKDLMSKAEKNGVKITLPVDFVT

Mouse                         LNNMEIGTSLYDEEGAKIVKDLMSKAEKNGVKITLPVDFVT

Rat                           LNNMEIGTSLYDEEGAKIVKDLMAKAEKNGVKITLPVDFVT

Pig                           LNNMEIGTSLFDEEGSKIVKDLMSKAEKNGVKITLPVDFVT

Bovine                        LNNMEIGTSLFDEEGSKIVKDLMSKADKNGVKITLPVDFVT

Horse                         LNNMEIGTSLFDEEGAKIVKNLMSKAEKNGVKITLPVDFVT

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	2 – 417	Phosphoglycerate kinase 1
Modified residue	267 – 267	N6-acetyllysine
Helix	266 – 275

Literature citations
A single amino acid substitution (Asp leads to Asn) in a phosphoglycerate kinase variant (PGK Munchen) associated with enzyme deficiency.
Fujii H.; Krietsch W.K.G.; Yoshida A.;
J. Biol. Chem. 255:6421-6423(1980)
Cited for: VARIANT MUNCHEN ASN-268; CATALYTIC ACTIVITY; FUNCTION; PATHWAY; Structure and function of normal and variant human phosphoglycerate kinase.
Huang I.-Y.; Fujii H.; Yoshida A.;
Hemoglobin 4:601-609(1980)
Cited for: VARIANT MUNCHEN ASN-268; VARIANT ASN-352;

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.