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:
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 NDVIKKHRISGAKTQMIMED WDFLQLQCALYINSE------LSGIPL
Bovine NDVIKKHRISGAKTQMIMED WDFLQLQCALYINSE------
Chicken NDVIKKHRISGAKTQMIMED WDFLQLQCALYINSE------
Slime mold NEHIRSNVDR-AEMSAIMED WDYLQASCAIYINSD------
Baker's yeast SSLIKAGLDKGISINNMMEH WDYLQLTVAMYINSDSVNPAM
Fission yeast SSLIRAALSKGTPISNLMEQ WEFMQLSIAMYINSE------
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
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;
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