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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03950: Variant p.Lys64Ile

Angiogenin
Gene: ANG
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Variant information Variant position: help 64 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 Lysine (K) to Isoleucine (I) at position 64 (K64I, p.Lys64Ile). 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 large size and basic (K) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 ALS9; reduced ribonucleolytic activity; low angiogenic activity; reduced mitogenic activity; moderate reduction of thermal stability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 64 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 147 The length of the canonical sequence.
Location on the sequence: help GRDDRYCESIMRRRGLTSPC K DINTFIHGNKRSIKAICENK 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.
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 25 – 147 Angiogenin
Binding site 64 – 68
Disulfide bond 50 – 105
Disulfide bond 63 – 116
Mutagenesis 59 – 59 L -> P. Homodimerization is similar to wild-type; causes mislocalization in the cytoplasm; strongly reduces ribonucleolytic activity.
Mutagenesis 64 – 64 K -> Q. Significantly decreases binding affinity for RNH1.



Literature citations
A novel candidate region for ALS on chromosome 14q11.2.
Greenway M.J.; Alexander M.D.; Ennis S.; Traynor B.J.; Corr B.; Frost E.; Green A.; Hardiman O.;
Neurology 63:1936-1938(2004)
Cited for: VARIANT ALS9 ILE-64; ANG mutations segregate with familial and 'sporadic' amyotrophic lateral sclerosis.
Greenway M.J.; Andersen P.M.; Russ C.; Ennis S.; Cashman S.; Donaghy C.; Patterson V.; Swingler R.; Kieran D.; Prehn J.; Morrison K.E.; Green A.; Acharya K.R.; Brown R.H. Jr.; Hardiman O.;
Nat. Genet. 38:411-413(2006)
Cited for: VARIANTS ALS9 LEU-36; ILE-41; GLU-41; LYS-55; TRP-63 AND ILE-64; VARIANT VAL-70; Characterization of human angiogenin variants implicated in amyotrophic lateral sclerosis.
Crabtree B.; Thiyagarajan N.; Prior S.H.; Wilson P.; Iyer S.; Ferns T.; Shapiro R.; Brew K.; Subramanian V.; Acharya K.R.;
Biochemistry 46:11810-11818(2007)
Cited for: CHARACTERIZATION OF VARIANTS ALS9 LEU-36; ILE-41; GLU-41; LYS-55; TRP-63 AND ILE-64; CHARACTERIZATION OF VARIANT VAL-70;
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.