Variant position: 133 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 318 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 ANMLSVAGADHIITMDLHAS QIQGFFDIPVDNLYAEPAVLK
Mouse ANMLSVAGADHIITMDLHAS QIQGFFDIPVDNLYAEPAVLK
Rat ANMLSVAGADHIITMDLHAS QIQGFFDIPVDNLYAEPAVLK
Bovine ANMLSVAGADHIITMDLHAS QIQGFFDIPVDNLYAEPAVLK
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 – 318 Ribose-phosphate pyrophosphokinase 1
128 – 128 Magnesium
130 – 130 Magnesium
139 – 139 Magnesium
143 – 143 Magnesium
130 – 130 ATP
132 – 132 S -> A. Reduces catalytic activity.
132 – 132 S -> F. No effect on catalytic activity.
144 – 144 N -> H. No effect on catalytic activity.
146 – 146 Y -> F. No effect on catalytic activity.
146 – 146 Y -> M. Reduces catalytic activity.
132 – 137
Arts syndrome is caused by loss-of-function mutations in PRPS1.
de Brouwer A.P.M.; Williams K.L.; Duley J.A.; van Kuilenburg A.B.P.; Nabuurs S.B.; Egmont-Petersen M.; Lugtenberg D.; Zoetekouw L.; Banning M.J.G.; Roeffen M.; Hamel B.C.J.; Weaving L.; Ouvrier R.A.; Donald J.A.; Wevers R.A.; Christodoulou J.; van Bokhoven H.;
Am. J. Hum. Genet. 81:507-518(2007)
Cited for: VARIANTS ARTS PRO-133 AND PRO-152;
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.