Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UL18: Variant p.Gly199Ser

Protein argonaute-1
Gene: AGO1
Feedback?
Variant information Variant position: help 199 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 Glycine (G) to Serine (S) at position 199 (G199S, p.Gly199Ser). 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 glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In NEDLBAS. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 199 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 857 The length of the canonical sequence.
Location on the sequence: help FFSPPEGYYHPLGGGREVWF G FHQSVRPAMWKMMLNIDVSA 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                         FFSPPEGYYHPLGGGREVWFGFHQSVRPAMWKMMLNIDVSA

Mouse                         FFSPPEGYYHPLGGGREVWFGFHQSVRPAMWKMMLNIDVSA

Fission yeast                 FFTGENGV--SLGGGVEAWKGFYQSIRPNQGFMSVNVDISS
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 1 – 857 Protein argonaute-1
Beta strand 194 – 206



Literature citations
De novo mutations in moderate or severe intellectual disability.
Hamdan F.F.; Srour M.; Capo-Chichi J.M.; Daoud H.; Nassif C.; Patry L.; Massicotte C.; Ambalavanan A.; Spiegelman D.; Diallo O.; Henrion E.; Dionne-Laporte A.; Fougerat A.; Pshezhetsky A.V.; Venkateswaran S.; Rouleau G.A.; Michaud J.L.;
PLoS Genet. 10:E1004772-E1004772(2014)
Cited for: VARIANT NEDLBAS SER-199; INVOLVEMENT IN NEDLBAS; Further evidence of a causal association between AGO1, a critical regulator of microRNA formation, and intellectual disability/autism spectrum disorder.
Sakaguchi A.; Yamashita Y.; Ishii T.; Uehara T.; Kosaki K.; Takahashi T.; Takenouchi T.;
Eur. J. Med. Genet. 62:103537-103537(2019)
Cited for: VARIANT NEDLBAS SER-199; De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability.
Schalk A.; Cousin M.A.; Dsouza N.R.; Challman T.D.; Wain K.E.; Powis Z.; Minks K.; Trimouille A.; Lasseaux E.; Lacombe D.; Angelini C.; Michaud V.; Van-Gils J.; Spataro N.; Ruiz A.; Gabau E.; Stolerman E.; Washington C.; Louie R.; Lanpher B.C.; Kemppainen J.L.; Innes M.; Kooy F.; Meuwissen M.; Goldenberg A.; Lecoquierre F.; Vera G.; Diderich K.E.M.; Sheidley B.; El Achkar C.M.; Park M.; Hamdan F.F.; Michaud J.L.; Lewis A.J.; Zweier C.; Reis A.; Wagner M.; Weigand H.; Journel H.; Keren B.; Passemard S.; Mignot C.; van Gassen K.; Brilstra E.H.; Itzikowitz G.; O'Heir E.; Allen J.; Donald K.A.; Korf B.R.; Skelton T.; Thompson M.; Robin N.H.; Rudy N.L.; Dobyns W.B.; Foss K.; Zarate Y.A.; Bosanko K.A.; Alembik Y.; Durand B.; Tran Mau-Them F.; Ranza E.; Blanc X.; Antonarakis S.E.; McWalter K.; Torti E.; Millan F.; Dameron A.; Tokita M.; Zimmermann M.T.; Klee E.W.; Piton A.; Gerard B.;
J. Med. Genet. 59:965-975(2022)
Cited for: VARIANTS NEDLBAS PHE-180 DEL; LEU-189; ARG-190; PRO-190; SER-199; VAL-216; HIS-253; ILE-254; LEU-324; ILE-355; ARG-358; GLU-376 DEL; PHE-418; LEU-751; MET-781 AND PHE-797;
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.