UniProtKB/Swiss-Prot Q8NBP7: Variant p.Ala53Val

Proprotein convertase subtilisin/kexin type 9
Gene: PCSK9
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Variant information Variant position:

53 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 Alanine (A) to Valine (V) at position 53 (A53V, p.Ala53Val). 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 small size and hydrophobic (A) to medium size and hydrophobic (V) 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
Polymorphism:

Variant Leu-23 ins polymorphism in PCSK9 might have a modifier effect on LDLR mutation and familial hypercholesterolemia.Genetic variations in PCSK9 define the low density lipoprotein cholesterol level quantitative trait locus 1 (LDLCQ1) [MIM:603776]. - Additional information on the polymorphism described.
Variant description:

Reduced phosphorylation at Ser-47. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11583680 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

DEDGDYEELVLALRSEEDGL A EAPEHGTTATFHRCAKDPWR 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                         DEDGDYEELVLALRSEEDGLAEAPEHGTTATFHRCAKDPWR

Gorilla                       DEDGDYEELVLALRSEEDGLAEAPEHGTTATFHRCAKDPWR

Rhesus macaque                DEDGDYEELVLALRSEEDGLADAPEHGATATFHRCAKDPWR

Chimpanzee                    DEDGDYEELVLALRSEEDGLAEAPEHGTTATFHRCAKDPWR

Mouse                         DEDGDYEELMLALPSQEDGLADEAAHVATATFRRCSKEAWR

Rat                           DEDGDYEELMLALPSQEDSLVDEASHVATATFRRCSKEAWR

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
Propeptide	31 – 152
Modified residue	38 – 38	Sulfotyrosine
Modified residue	47 – 47	Phosphoserine; by FAM20C
Alternative sequence	1 – 174	MGTVSSRRSWWPLPLLLLLLLLLGPAGARAQEDEDGDYEELVLALRSEEDGLAEAPEHGTTATFHRCAKDPWRLPGTYVVVLKEETHLSQSERTARRLQAQAARRGYLTKILHVFHGLLPGFLVKMSGDLLELALKLPHVDYIEEDSSVFAQSIPWNLERITPPRYRADEYQPP -> MSPWK. In isoform 2.
Mutagenesis	67 – 67	C -> A. Does not affect multimerization or zymogen processing.

Literature citations
Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS LEU-23 INS; LEU-46; VAL-53; SER-425; THR-443; ILE-474; ARG-553; PRO-619 AND GLU-670; Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.
Abifadel M.; Varret M.; Rabes J.-P.; Allard D.; Ouguerram K.; Devillers M.; Cruaud C.; Benjannet S.; Wickham L.; Erlich D.; Derre A.; Villeger L.; Farnier M.; Beucler I.; Bruckert E.; Chambaz J.; Chanu B.; Lecerf J.-M.; Luc G.; Moulin P.; Weissenbach J.; Prat A.; Krempf M.; Junien C.; Seidah N.G.; Boileau C.;
Nat. Genet. 34:154-156(2003)
Cited for: VARIANTS FHCL3 ARG-127 AND LEU-216; VARIANTS LEU-46; VAL-53 AND GLU-670; A spectrum of PCSK9 alleles contributes to plasma levels of low-density lipoprotein cholesterol.
Kotowski I.K.; Pertsemlidis A.; Luke A.; Cooper R.S.; Vega G.L.; Cohen J.C.; Hobbs H.H.;
Am. J. Hum. Genet. 78:410-422(2006)
Cited for: VARIANTS LEU-46; VAL-53; LYS-57; TRP-237; PHE-253; ASN-391; GLN-417; SER-425; THR-443; TRP-469; ILE-474; GLY-482; LEU-515; ARG-553; GLU-554; PRO-619 AND GLU-670; Genetic variation in APOB, PCSK9, and ANGPTL3 in carriers of pathogenic autosomal dominant hypercholesterolemic mutations with unexpected low LDL-Cl Levels.
Huijgen R.; Sjouke B.; Vis K.; de Randamie J.S.; Defesche J.C.; Kastelein J.J.; Hovingh G.K.; Fouchier S.W.;
Hum. Mutat. 33:448-455(2012)
Cited for: POLYMORPHISM; VARIANT FHCL3 SER-394; VARIANTS LEU-23 INS; LEU-46; VAL-53; ILE-474 AND GLU-670;

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.