Sequence information
Variant position: 177 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 312 The length of the canonical sequence.
Location on the sequence:
KYSKEKTLKWLEKKVNQTVA
A LKTNNVNVSSRVQSTAFFSG
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 KYSKEKTLKWLEKKVNQTVAA LKTNNVNVSSRVQSTAFFSG
Mouse KYSSEKTLKWLEKKVNQTVVA LKANNVNVGARVQSSAYFSG
Rat KYSTEKTLKWLEKKVNQTVAA LKANHVNVGARVQSSAYFSG
Bovine KYSKEKTLKWLGKKVNQTMAA LKTNKVNVSARVQSTAFFSG
Xenopus laevis KYSKEKALVWLKKKVDQTVKV LKSSKVCVGGGVQSATFIRS
Xenopus tropicalis KYSKEKTLVWLKKKVELTVKV LKSSNICVGGGVQSATFIRN
Baker's yeast KITSAMITQFLLGKVSKIVEN FPPSIPTL-----------K
Fission yeast QLDESSVVKILLRKAKVAQEN LPPSIVTELKKQLAPLDLRT
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
2 – 312
Ribonuclease H2 subunit B
Helix
160 – 181
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: VARIANTS AGS2 ARG-60; ARG-86; THR-162; ILE-163; THR-177; GLY-185 AND HIS-219; FUNCTION; TISSUE SPECIFICITY; INTERACTION WITH RNASEH2A AND RNASEH2C;
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 AGS2 THR-177 AND PRO-229;
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.