Sequence information
Variant position: 804 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:
GSKGSFINISQMIACVGQQA
I SGSRVPDGFENRSLPHFEKH
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 GSKGSFINISQMIACVGQQAI SGSRVPDGFENRSLPHFEKH
Bovine GSKGSFINISQMIACVGQQAI SGSRVPDGFENRSLPHFEKH
Chicken GSKGSFINISQMIACVGQQAI SGSRVPDGFENRSLPHFEKH
Slime mold GSKGSNINIAQMICCVGQQIV NGTRIPNGFTNRTTPHFKHF
Baker's yeast GSKGSTLNVSQMVAVVGQQII SGNRVPDGFQDRSLPHFPKN
Fission yeast GSKGSKINVSQMVACVGQQII SGKRVPDGFQDRSLPHFHKN
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
Beta strand
804 – 807
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.