UniProtKB/Swiss-Prot O75792: Variant p.Gly37Ser

Ribonuclease H2 subunit A
Gene: RNASEH2A
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Variant information Variant position:

37 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

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:

From Glycine (G) to Serine (S) at position 37 (G37S, p.Gly37Ser). 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:

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:

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:

In AGS4; strongly impairs enzyme activity but not interaction with RNASEH2B and RNASEH2C. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs76857106 [ dbSNP | Ensembl ]

Sequence information Variant position:

37 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

299 The length of the canonical sequence.
Location on the sequence:

SSPVPAVCRKEPCVLGVDEA G RGPVLGPMVYAICYCPLPRL 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         SSPVPAVCRKE---PCVLGVDEAGRGPVLGPMVYAICYCPLPRL

Mouse                         SSPVPAVCLKE---PCVLGVDEAGRGPVLGPMVYAICYCPL

Rat                           SSPVPAVCLKE---PCVLGVDEAGRGPVLGPMVYAICYCPL

Bovine                        SSPVPPVCLKE---PCVLGVDEAGRGPVLGPMVYAICYCPL

Caenorhabditis elegans        GNGIP----------CVLGIDEAGRGPVLGPMVYAAAISPL

Drosophila                    LSDVPDICKDK---PCMLGVDEAGRGPVLGPMVYGISYCPL

Slime mold                    TELDSSVDKSE---PFVMGIDEAGRGPVMGPMVYGCCYAPI

Baker's yeast                 FSPVPSALLEQNDSPIIMGIDEAGRGPVLGPMVYAVAYSTQ

Fission yeast                 YHSTVTDDISKSQ-PYRLGVDEAGRGPVLGPMVYAVAYCPV

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	1 – 299	Ribonuclease H2 subunit A
Domain	28 – 250	RNase H type-2
Binding site	34 – 34
Binding site	35 – 35

Literature citations
Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutieres syndrome and mimic congenital viral brain infection.
Crow Y.J.; Leitch A.; Hayward B.E.; Garner A.; Parmar R.; Griffith E.; Ali M.; Semple C.; Aicardi J.; Babul-Hirji R.; Baumann C.; Baxter P.; Bertini E.; Chandler K.E.; Chitayat D.; Cau D.; Dery C.; Fazzi E.; Goizet C.; King M.D.; Klepper J.; Lacombe D.; Lanzi G.; Lyall H.; Martinez-Frias M.L.; Mathieu M.; McKeown C.; Monier A.; Oade Y.; Quarrell O.W.; Rittey C.D.; Rogers R.C.; Sanchis A.; Stephenson J.B.P.; Tacke U.; Till M.; Tolmie J.L.; Tomlin P.; Voit T.; Weschke B.; Woods C.G.; Lebon P.; Bonthron D.T.; Ponting C.P.; Jackson A.P.;
Nat. Genet. 38:910-916(2006)
Cited for: VARIANT AGS4 SER-37; CHARACTERIZATION OF VARIANT AGS4 SER-37; FUNCTION; INTERACTION WITH RNASEH2B AND RNASEH2C; Clinical and molecular phenotype of Aicardi-Goutieres syndrome.
Rice G.; Patrick T.; Parmar R.; Taylor C.F.; Aeby A.; Aicardi J.; Artuch R.; Montalto S.A.; Bacino C.A.; Barroso B.; Baxter P.; Benko W.S.; Bergmann C.; Bertini E.; Biancheri R.; Blair E.M.; Blau N.; Bonthron D.T.; Briggs T.; Brueton L.A.; Brunner H.G.; Burke C.J.; Carr I.M.; Carvalho D.R.; Chandler K.E.; Christen H.J.; Corry P.C.; Cowan F.M.; Cox H.; D'Arrigo S.; Dean J.; De Laet C.; De Praeter C.; Dery C.; Ferrie C.D.; Flintoff K.; Frints S.G.; Garcia-Cazorla A.; Gener B.; Goizet C.; Goutieres F.; Green A.J.; Guet A.; Hamel B.C.; Hayward B.E.; Heiberg A.; Hennekam R.C.; Husson M.; Jackson A.P.; Jayatunga R.; Jiang Y.H.; Kant S.G.; Kao A.; King M.D.; Kingston H.M.; Klepper J.; van der Knaap M.S.; Kornberg A.J.; Kotzot D.; Kratzer W.; Lacombe D.; Lagae L.; Landrieu P.G.; Lanzi G.; Leitch A.; Lim M.J.; Livingston J.H.; Lourenco C.M.; Lyall E.G.; Lynch S.A.; Lyons M.J.; Marom D.; McClure J.P.; McWilliam R.; Melancon S.B.; Mewasingh L.D.; Moutard M.L.; Nischal K.K.; Ostergaard J.R.; Prendiville J.; Rasmussen M.; Rogers R.C.; Roland D.; Rosser E.M.; Rostasy K.; Roubertie A.; Sanchis A.; Schiffmann R.; Scholl-Burgi S.; Seal S.; Shalev S.A.; Corcoles C.S.; Sinha G.P.; Soler D.; Spiegel R.; Stephenson J.B.; Tacke U.; Tan T.Y.; Till M.; Tolmie J.L.; Tomlin P.; Vagnarelli F.; Valente E.M.; Van Coster R.N.; Van der Aa N.; Vanderver A.; Vles J.S.; Voit T.; Wassmer E.; Weschke B.; Whiteford M.L.; Willemsen M.A.; Zankl A.; Zuberi S.M.; Orcesi S.; Fazzi E.; Lebon P.; Crow Y.J.;
Am. J. Hum. Genet. 81:713-725(2007)
Cited for: VARIANTS AGS4 SER-37; TRP-108; TRP-186; LEU-230; GLN-235; MET-240 AND HIS-291; VARIANTS ASP-99; SER-202; GLU-205 AND GLY-260;

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.