Variant position: 372 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1390 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 FRGNLSGKRVDFSGRTVISP DPNLRIDEVAVPVHVAKILTF
Bovine FRGNLSGKRVDFSGRTVISP DPNLRIDEVAVPVHVAKILTF
Chicken FRGNLSGKRVDFSGRTVISP DPNLRIDEVAVPIHVAKILTF
Slime mold FRGNLSGKRVDFSGRTVISP DPNLNIDEVAVPQLIALTMTY
Baker's yeast FRGNLSGKRVDFSGRTVISP DPNLSIDEVAVPDRVAKVLTY
Fission yeast FRGNLSGKRVDFSGRTVISP DPNLRIDQVAVPYRIAKILTF
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 – 1390 DNA-directed RNA polymerase III subunit RPC1
Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy.
Bernard G.; Chouery E.; Putorti M.L.; Tetreault M.; Takanohashi A.; Carosso G.; Clement I.; Boespflug-Tanguy O.; Rodriguez D.; Delague V.; Abou Ghoch J.; Jalkh N.; Dorboz I.; Fribourg S.; Teichmann M.; Megarbane A.; Schiffmann R.; Vanderver A.; Brais B.;
Am. J. Hum. Genet. 89:415-423(2011)
Cited for: VARIANTS HLD7 ASN-372; LEU-558; TYR-636; GLU-672; TYR-724; ILE-775; VAL-852 AND THR-1247 INS; INVOLVEMENT IN HLD7; TISSUE SPECIFICITY;
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.