DOI: 10.6084/m9.figshare.22263538
title: WAC amino acid data

description: The file contains the following two tabs with labeled columns: <br> <strong>Amino Acid Combined:</strong> Amino Acid- The number of each amino acid. NP 057712.2 Homo sapiens- The amino acid used at each position. AA #- The combined amino acid and number for each ELM / NLS- The number of annotated motifs for each amino acid. ELM (nuclear compartment) / NLS- The motif details predicted at each amino acid. Clinical Missense- The number of ClinVar or Geno2MP variants observed in rare disease patients. Conservation- The percent of all species with conservation relative to the human amino acid. Basic- The percent of all species with conservation of polar basic (R/K/H) amino acids relative to the human amino acid. Acidic- The percent of all species with conservation of polar acidic (E/D) amino acids relative to the human amino acid. S/T- The percent of all species with conservation of S/T amino acids relative to the human amino acid. These amino acids have potential phosphorylation. 21 codon score- The conservation scores placed on a 21-codon sliding window, such that each score represents the amino acid with ten before and after added together. 21 codon score Basic- The conservation scores of basic amino acids placed on a 21-codon sliding window, such that each score represents the amino acid with ten before and after added together. 21 codon score Acidic- The conservation scores of acidic amino acids placed on a 21-codon sliding window, such that each score represents the amino acid with ten before and after added together. 21 codon score S/T- The conservation scores of S/T amino acids placed on a 21-codon sliding window, such that each score represents the amino acid with ten before and after added together. Features- UniProt annotations from each amino acid. Splice sites- A value of 1 indicates the two amino acids found at each splicing site of WAC sequence. Modification- UniProt annotated posttranslational modifications. Modification Score- A binary score if a modification occurs at the amino acid. gnomAD missense diff var- The number of unique gnomAD annocated missense variants at each amino acid. gnomAD missense combined frequency- The total allele frequency of all missense variants at each amino acid. A value of 1 is 100% variant and 0 is 0% variant. ClinVar LoF diff var- Unique loss of function variants within the ClinVar database. These are stop codons and splicing changes. ClinVar LoF top CADD- The highest CADD score of any ClinVar loss of function variant at the amino acid. The higher the score the more deleterious a variant is. ClinVar missense diff var- Unique missense variants within the ClinVar database. ClinVar missense top CADD- The highest CADD score of any ClinVar missense variant at the amino acid. The higher the score the more deleterious a variant is. Geno2MP total HPO profiles- The total number of Geno2MP human phenotype profiles for variants at the amino acid. Geno2MP top CADD- The highest CADD score of any Geno2MP missense variant at the amino acid. The higher the score the more deleterious a variant is. Following tabs- represent the amino acid found in the alignment from various species WAC sequence. <br> <strong>Geno2MP Missense</strong>: A tab that lists all of the Geno2MP listed variants. Details of the column heads can be found at https://geno2mp.gs.washington.edu/.