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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y3Z3: Variant p.Arg290His

Deoxynucleoside triphosphate triphosphohydrolase SAMHD1
Gene: SAMHD1
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Variant information Variant position: help 290 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 Arginine (R) to Histidine (H) at position 290 (R290H, p.Arg290His). 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 (R) to medium size and polar (H) 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 AGS5; loss of oligomerization; decreased ability to restrict LINE-1 retrotransposon activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 290 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 626 The length of the canonical sequence.
Location on the sequence: help EQIVGPLESPVEDSLWPYKG R PENKSFLYEIVSNKRNGIDV 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                         EQIVGPL------------ESPVED--------SLWPYKGRPENKSFLYEIVSNKRNGIDV

Mouse                         EQIMGPP------------ITPVKD--------SLWPYKGR

Bovine                        EQITGPP------------ESPIKDA-------SKWLYKGR

Chicken                       EQIGGPI------------DETACE--------ESWPYRGR

Xenopus laevis                EQIAGPL------------SSEAEQQFNSSPNSSSWPYRGR

Zebrafish                     EQIAGPL------------ESAVLDQ-------SQWPYKGR

Caenorhabditis elegans        ELISGKPFDFQDMDGFKDLPADVREE----TVKNEWAIIGC

Slime mold                    SLIQG---------------------------------KHR
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 – 626 Deoxynucleoside triphosphate triphosphohydrolase SAMHD1
Domain 164 – 316 HD
Alternative sequence 285 – 354 Missing. In isoform 3.
Beta strand 288 – 290



Literature citations
Modulation of LINE-1 and Alu/SVA retrotransposition by Aicardi-Goutieres syndrome-related SAMHD1.
Zhao K.; Du J.; Han X.; Goodier J.L.; Li P.; Zhou X.; Wei W.; Evans S.L.; Li L.; Zhang W.; Cheung L.E.; Wang G.; Kazazian H.H. Jr.; Yu X.F.;
Cell Rep. 4:1108-1115(2013)
Cited for: FUNCTION; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS AGS5 PRO-123; HIS-143; GLN-145; TYR-167; ASN-201; SER-209; VAL-254 AND HIS-290; A SAMHD1 mutation associated with Aicardi-Goutieres Syndrome uncouples the ability of SAMHD1 to restrict HIV-1 from its ability to downmodulate type I interferon in humans.
White T.E.; Brandariz-Nunez A.; Martinez-Lopez A.; Knowlton C.; Lenzi G.; Kim B.; Ivanov D.; Diaz-Griffero F.;
Hum. Mutat. 38:658-668(2017)
Cited for: FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS AGS5 PRO-123; CYS-143; HIS-143; GLN-145; TYR-167; ASN-201; SER-209; VAL-254; HIS-290; SER-369; VAL-385 AND THR-448; MUTAGENESIS OF ARG-226; ASP-311 AND GLN-548; Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Goutieres syndrome.
Ramantani G.; Kohlhase J.; Hertzberg C.; Innes A.M.; Engel K.; Hunger S.; Borozdin W.; Mah J.K.; Ungerath K.; Walkenhorst H.; Richardt H.H.; Buckard J.; Bevot A.; Siegel C.; von Stuelpnagel C.; Ikonomidou C.; Thomas K.; Proud V.; Niemann F.; Wieczorek D.; Haeusler M.; Niggemann P.; Baltaci V.; Conrad K.; Lebon P.; Lee-Kirsch M.A.;
Arthritis Rheum. 62:1469-1477(2010)
Cited for: VARIANTS AGS5 TYR-167 AND HIS-290;
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.