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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P61626: Variant p.Asp85His

Lysozyme C
Gene: LYZ
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Variant information Variant position: help 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Aspartate (D) to Histidine (H) at position 85 (D85H, p.Asp85His). 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 Change from medium size and acidic (D) to medium size and polar (H) 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
Variant description: help In AMYLD5. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 85 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 148 The length of the canonical sequence.
Location on the sequence: help AGDRSTDYGIFQINSRYWCN D GKTPGAVNACHLSCSALLQD 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                         AGDRSTDYGIFQINSRYWCNDGKTPGAVNACHLSCSALLQD---------

Gorilla                       AGDRSTDYGIFQINSRYWCNDGKTPGAVNACHLSCSALLQD

Rhesus macaque                PGDQSTDYGIFQINSHYWCNNGKTPGAVNACHISCNALLQD

Chimpanzee                    AGDRSTDYGIFQINSRYWCNDGKTPGAVNACHLSCSALLQD

Bovine                        PSSESTDYGIFQINSKWWCNDGKTPNAVDGCHVSCRELMEN

Rabbit                        PGDKSTDYGIFQINSRYWCNDGKTPRAVNACHIPCSDLLKD

Chicken                       T-DGSTDYGILQINSRWWCNDGRTPGSRNLCNIPCSALLSS

Slime mold                    RGKKCVKAKVYDAGPAEWVEKDAGKMIIDASPTICHELTGG
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 19 – 148 Lysozyme C
Domain 19 – 148 C-type lysozyme
Active site 71 – 71
Disulfide bond 24 – 146
Disulfide bond 48 – 134
Disulfide bond 83 – 99



Literature citations
Human lysozyme gene mutations cause hereditary systemic amyloidosis.
Pepy M.B.; Hawkins P.N.; Booth D.R.; Vigushin D.M.; Tennent G.A.; Soutar A.K.; Totty N.; Nguyen O.; Blake C.C.F.; Terry C.J.; Feest T.G.; Zalin A.M.; Hsuan J.J.;
Nature 362:553-557(1993)
Cited for: VARIANTS AMYLD5 THR-74 AND HIS-85; INVOLVEMENT IN AMYLD5;
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.