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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95163: Variant p.Pro914Leu

Elongator complex protein 1
Gene: ELP1
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Variant information Variant position: help 914 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Proline (P) to Leucine (L) at position 914 (P914L, p.Pro914Leu). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page
Variant description: help In HSAN3; reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization. Any additional useful information about the variant.


Sequence information Variant position: help 914 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1332 The length of the canonical sequence.
Location on the sequence: help SLGTYDFDLVLMVAEKSQKD P KEYLPFLNTLKKMETNYQRF 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRF

Mouse                         SLGTYDFNLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRF

Rat                           SLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRF

Rabbit                        SLGTYDFDLVLMVAEKSQKDPKEYLPFLNTLKKMETNYQRF

Xenopus laevis                SLGTYDFDLVVMVAEKSQKDPKEYLPFLNKLKKMETNYQRY

Drosophila                    ALGTYDFGLVLFVAQKSQKDPKEFLPYLNDLKALPIDYRKF

Baker's yeast                 ALSLYDVSLALLVAQKSQMDPREYLPFLQELQDNEPLRRKF

Fission yeast                 ALGLYDLKLALLIAQQSQKDPREYVPFLHEFQKQESLRRKF
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1332 Elongator complex protein 1
Region 885 – 1332 Mediates dimerization



Literature citations
Dimerization of elongator protein 1 is essential for Elongator complex assembly.
Xu H.; Lin Z.; Li F.; Diao W.; Dong C.; Zhou H.; Xie X.; Wang Z.; Shen Y.; Long J.;
Proc. Natl. Acad. Sci. U.S.A. 112:10697-10702(2015)
Cited for: X-RAY CRYSTALLOGRAPHY (3.02 ANGSTROMS) OF 715-1332; SUBUNIT; IDENTIFICATION IN THE ELONGATOR COMPLEX; DIMERIZATION REGION; CHARACTERIZATION OF VARIANTS PRO-696; LEU-914; SER-1072 AND LEU-1158; MUTAGENESIS OF ARG-1011; Identification of the first non-Jewish mutation in familial Dysautonomia.
Leyne M.; Mull J.; Gill S.P.; Cuajungco M.P.; Oddoux C.; Blumenfeld A.; Maayan C.; Gusella J.F.; Axelrod F.B.; Slaugenhaupt S.A.;
Am. J. Med. Genet. A 118A:305-308(2003)
Cited for: VARIANT HSAN3 LEU-914;
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.