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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P03950: Variant p.Ile70Val

Angiogenin
Gene: ANG
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Variant information Variant position: help 70 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Isoleucine (I) to Valine (V) at position 70 (I70V, p.Ile70Val). 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 hydrophobic. 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 some ALS9 patients; uncertain significance; reduced ribonucleolytic 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 70 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 CESIMRRRGLTSPCKDINTF I HGNKRSIKAICENKNGNPHR 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
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.
Beta strand 65 – 70



Literature citations
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; Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosis.
Gellera C.; Colombrita C.; Ticozzi N.; Castellotti B.; Bragato C.; Ratti A.; Taroni F.; Silani V.;
Neurogenetics 9:33-40(2008)
Cited for: VARIANTS ALS9 SER-12; SER-20; ILE-137 AND ARG-138; 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.