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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NBP7: Variant p.His391Asn

Proprotein convertase subtilisin/kexin type 9
Gene: PCSK9
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Variant information Variant position: help 391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Histidine (H) to Asparagine (N) at position 391 (H391N, p.His391Asn). 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: help Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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

Polymorphism: help 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.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 391 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 692 The length of the canonical sequence.
Location on the sequence: help ASSDCSTCFVSQSGTSQAAA H VAGIAAMMLSAEPELTLAEL 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         ASSDCSTCFVSQSGTSQAAAHVAGIAAMMLSAEPELTLAEL

Gorilla                       ASSDCSTCFVSQSGTSQAAAHVAGIAAMMLSAEPELTLAEL

Rhesus macaque                ASSDCSTCFVSRSGTSQAAAHVAGIAAMMLSAEPELTLAEL

Chimpanzee                    ASSDCSTCFVSQSGTSQAAAHVAGIAAMMLSAEPELTLAEL

Mouse                         ASSDCSTCFMSQSGTSQAAAHVAGIVARMLSREPTLTLAEL

Rat                           ASSDCSTCYMSQSGTSQAAAHVAGIVAMMLNRDPALTLAEL

Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 153 – 692 Proprotein convertase subtilisin/kexin type 9
Domain 155 – 461 Peptidase S8
Active site 386 – 386 Charge relay system
Alternative sequence 366 – 692 Missing. In isoform 2.
Helix 385 – 402



Literature citations
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;
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.