Sequence information
Variant position: 310 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:
NDVIKKHRISGAKTQMIMED
W DFLQLQCALYINSELSGIPL
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 NDVIKKHRISGAKTQMIMEDW DFLQLQCALYINSE------LSGIPL
Bovine NDVIKKHRISGAKTQMIMEDW DFLQLQCALYINSE------
Chicken NDVIKKHRISGAKTQMIMEDW DFLQLQCALYINSE------
Slime mold NEHIRSNVDR-AEMSAIMEDW DYLQASCAIYINSD------
Baker's yeast SSLIKAGLDKGISINNMMEHW DYLQLTVAMYINSDSVNPAM
Fission yeast SSLIRAALSKGTPISNLMEQW EFMQLSIAMYINSE------
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
Chain
1 – 1390
DNA-directed RNA polymerase III subunit RPC1
Helix
303 – 321
Literature citations
Novel compound heterozygous mutations of POLR3A revealed by whole-exome sequencing in a patient with hypomyelination.
Shimojima K.; Shimada S.; Tamasaki A.; Akaboshi S.; Komoike Y.; Saito A.; Furukawa T.; Yamamoto T.;
Brain Dev. 36:315-321(2014)
Cited for: VARIANTS HLD7 CYS-310 AND THR-804;
Disclaimer:
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.