Variant position: 271 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 384 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 EIIFNPSATIGALSESLWPI EARNAAIANHCFTCAINRVGT
Mouse EIIFNPSATIGELSESLWPI EARNAAIANHCFTCALNRVGQ
Rat EIIFNPSATIGELSESMWPI EARNAAIANHCFTCALNRVGQ
Slime mold EIVFNPSATVGELSEPMWGV EARNAAMTNNYFVGSINRVGT
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.
Clinical, biochemical and molecular analysis of 13 Japanese patients with beta-ureidopropionase deficiency demonstrates high prevalence of the c.977G > A (p.R326Q) mutation [corrected].
Nakajima Y.; Meijer J.; Dobritzsch D.; Ito T.; Meinsma R.; Abeling N.G.; Roelofsen J.; Zoetekouw L.; Watanabe Y.; Tashiro K.; Lee T.; Takeshima Y.; Mitsubuchi H.; Yoneyama A.; Ohta K.; Eto K.; Saito K.; Kuhara T.; van Kuilenburg A.B.;
J. Inherit. Metab. Dis. 37:801-812(2014)
Cited for: VARIANTS UPB1D SER-13; LYS-271; THR-286 AND GLN-326; CHARACTERIZATION OF VARIANTS UPB1D SER-13; LYS-271; THR-286 AND GLN-326; FUNCTION; CATALYTIC ACTIVITY; PATHWAY; SUBUNIT;
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.