Variant position: 324 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 636 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 ITSMSEHFCGTCNRLRITAD GNLKVCLFGNSEVSLRDHLRA
Mouse ITSMSEHFCGTCNRLRITAD GNLKVCLFGNSEVSLRDHLRA
Bovine ITSMSEHFCGTCNRLRITAD GNLKVCLFGNSEVSLRDHLRA
Caenorhabditis elegans ITSMSDHFCNTCNRLRITAD GNLKVCLHGNSEVSLRDRIRC
Drosophila ITSMTEHFCGTCNRLRLTAD GNIKVCLFGNKEFSLRDAMRD
Slime mold ITSMSEHFCSSCNRLRITAD GNLKVCLFGNTEVNLRDRIRD
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
1 – 636 Molybdenum cofactor biosynthesis protein 1
1 – 383 Molybdenum cofactor biosynthesis protein A
312 – 312 Iron-sulfur (4Fe-4S) 2; 4Fe-4S-substrate
315 – 315 Iron-sulfur (4Fe-4S) 2; 4Fe-4S-substrate
329 – 329 Iron-sulfur (4Fe-4S) 2; 4Fe-4S-substrate
312 – 312 C -> S. Impairs precursor Z synthesis.
315 – 315 C -> S. Impairs precursor Z synthesis.
329 – 329 C -> S. Impairs precursor Z synthesis.
Mutations in the molybdenum cofactor biosynthetic genes MOCS1, MOCS2, and GEPH.
Reiss J.; Johnson J.L.;
Hum. Mutat. 21:569-576(2003)
Cited for: VARIANTS MOCODA TRP-123 AND ARG-324;
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.