UniProtKB/Swiss-Prot Q9UHK6: Variant p.Glu277Lys

Alpha-methylacyl-CoA racemase
Gene: AMACR
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Variant information Variant position:

277 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 Glutamate (E) to Lysine (K) at position 277 (E277K, p.Glu277Lys). 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
Other resources:

Links to websites of interest for the variant.

Variant rs2278008 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NQMSMDDWPEMKKKFADVFA E KTKAEWCQIFDGTDACVTPV 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                         NQMSMDDWPEMKKKFADVFAEKTKAEWCQIFDGTDACVTPV

Mouse                         SQMSSADWPEMKKKFADVFAKKTKAEWCQIFDGTDACVTPV

Rat                           SQMSIEDWPEMKKKFADVFARKTKAEWCQIFDGTDACVTPV

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 – 382	Alpha-methylacyl-CoA racemase
Modified residue	268 – 268	N6-succinyllysine
Alternative sequence	199 – 382	Missing. In isoform 3.
Alternative sequence	230 – 382	Missing. In isoform 2.

Literature citations
Mitochondrial and peroxisomal targeting of 2-methylacyl-CoA racemase in humans.
Amery L.; Fransen M.; De Nys K.; Mannaerts G.P.; Van Veldhoven P.P.;
J. Lipid Res. 41:1752-1759(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS ASP-175; SER-201; THR-261 AND LYS-277; SUBCELLULAR LOCATION; MICROBODY TARGETING; Mutations in the gene encoding peroxisomal alpha-methylacyl-CoA racemase cause adult-onset sensory motor neuropathy.
Ferdinandusse S.; Denis S.; Clayton P.T.; Graham A.; Rees J.E.; Allen J.T.; McLean B.N.; Brown A.Y.; Vreken P.; Waterham H.R.; Wanders R.J.A.;
Nat. Genet. 24:188-191(2000)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); FUNCTION; CATALYTIC ACTIVITY; VARIANT AMACRD PRO-52; VARIANT CBAS4 PRO-107; VARIANTS SER-201 AND LYS-277; CHARACTERIZATION OF VARIANT AMACRD PRO-52; CHARACTERIZATION OF VARIANT CBAS4 PRO-107; A variant of the alpha-methyl-acyl-CoA racemase gene created by a deletion in exon 5 and its expression in prostate cancer.
Mubiru J.N.; Valente A.J.; Troyer D.A.;
Prostate 65:117-123(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 4); VARIANTS SER-201 AND LYS-277; Human alpha-methylacyl-CoA racemase cDNA sequence.
Albers C.; Schmitz W.; Conzelmann E.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MET-9; ASP-175; SER-201; THR-261 AND LYS-277;

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.