Variant position: 521 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 600 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 DTVRFALRRMEELGLHPADH QVYFGQLLGMCDQISFPLG------QA
Mouse DTVHFTLCRMKEIGLHPADG QVCFGQLLGMCDQISFPLG--
Bovine DTVRFTLRRMEELGLHPADR QVYFGQLLGMCDHISFPLG--
Caenorhabditis elegans DTVRFALNLMKEKCISPSER VMCMAQLYGMCDQVSFSLG--
Drosophila DTVRFAIQQMKEIGISPEDK VICFGQLLGMCDYITFPLG--
Slime mold DSINLGTKLIKQYKIDPTNP NIQFGQLFGMADFLSFNLV--
Fission yeast KTMFESVNLAETKKVDFTKT SFYLAQLLGMADDITYALAYS
Functional consequences of PRODH missense mutations.
Bender H.-U.; Almashanu S.; Steel G.; Hu C.-A.; Lin W.-W.; Willis A.; Pulver A.; Valle D.;
Am. J. Hum. Genet. 76:409-420(2005)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); ENZYME ACTIVITY; COFACTOR; VARIANTS VAL-167 AND ARG-521; CHARACTERIZATION OF VARIANTS HYRPRO1 MET-289; ASN-426; MET-427; HIS-431; PRO-441; CYS-453; SER-455; THR-472 AND ARG-521; CHARACTERIZATION OF VARIANTS SCZD4 LEU-406 AND MET-466; CHARACTERIZATION OF VARIANTS VAL-167; TRP-185; GLN-185 AND GLU-521;
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.