Sequence information
Variant position: 229 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:
IRYAHGLISDYIPKELSDDL
S KYLKLPEPSASLPNPPSKKI
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 IRYAHGLISDYIPKELSDDLS KYL-KLPEPSASLPNPPSKKI
Mouse VRYAHGLISDYIPKELSDDLS KFL-KLPEPPASLTNPPSKK
Rat VRYAHGLISDYIPKELSDDLS KLL-KLPEPPASLPNPPAKK
Bovine VRYAHGLISDYIPKQLSDDLS KYL-KLPEPPASVRNPPSKK
Xenopus laevis TRYAHGLISEYLTEDLREDLS KYL-GLPDLSSPTPEPPVKK
Xenopus tropicalis TRYAHGLISEYLTEDLREDLS KYL-GLPDLSSPTPEPPVKK
Baker's yeast VVMATNLLVSLIPRAAYHNLL TFS---PTMDSGCLNPDIKA
Fission yeast KWHAASLVCEDLQPEWYNKLA YWQEELAPLHAYTKNLEESR
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
222 – 230
Literature citations
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.