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:
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 IRYAHGLISDYIPKELSDDL SKYL-KLPEPSASLPNPPSKKI
Mouse VRYAHGLISDYIPKELSDDL SKFL-KLPEPPASLTNPPSKK
Rat VRYAHGLISDYIPKELSDDL SKLL-KLPEPPASLPNPPAKK
Bovine VRYAHGLISDYIPKQLSDDL SKYL-KLPEPPASVRNPPSKK
Xenopus laevis TRYAHGLISEYLTEDLREDL SKYL-GLPDLSSPTPEPPVKK
Xenopus tropicalis TRYAHGLISEYLTEDLREDL SKYL-GLPDLSSPTPEPPVKK
Baker's yeast VVMATNLLVSLIPRAAYHNL LTFS---PTMDSGCLNPDIKA
Fission yeast KWHAASLVCEDLQPEWYNKL AYWQEELAPLHAYTKNLEESR
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
2 – 312 Ribonuclease H2 subunit B
222 – 230
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;
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.