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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95163: Variant p.Arg696Pro

Elongator complex protein 1
Gene: ELP1
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Variant information Variant position: help 696 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 Arginine (R) to Proline (P) at position 696 (R696P, p.Arg696Pro). 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 Change from large size and basic (R) to medium size and hydrophobic (P) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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; mild phenotype; phosphorylation is reduced; does not affect interaction with ELP2; reduced interaction with ELP3; does not affect dimerization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 696 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 GLSSNHVSHGEVLRKVERGS R IVTVVPQDTKLVLQMPRGNL 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                         GLSSNHVSHGEVLRKVERGSRIVTVVPQDTKLVLQMPRGNL

Mouse                         ALSGSHEASGEILRKVERGSRIVTVVPQDTKLILQMPRGNL

Rat                           GLCGSQVPSGEILRKVERGSRIVTVVPQDTKLILQMPRGNL

Rabbit                        GLSSSHVSNGEILRKVERGSRIVTVVPQDTKLILQMPRGNL

Xenopus laevis                QLNSASNPNDETIRKVERGSRIITVVPCDTKLILQMPRGNL

Drosophila                    RRQVAS-------RNIERGAKIVTAVARKARVVLQLPRGNL

Baker's yeast                 VEEGVE---DERVRAIERGSILVSVIPSKSSVVLQATRGNL

Fission yeast                 VEDDAVDRHDERCRVVERGSKIVASMPSKMAVVLQMPRGNL
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



Literature citations
Tissue-specific expression of a splicing mutation in the IKBKAP gene causes familial dysautonomia.
Slaugenhaupt S.A.; Blumenfeld A.; Gill S.P.; Leyne M.; Mull J.; Cuajungco M.P.; Liebert C.B.; Chadwick B.P.; Idelson M.; Reznik L.; Robbins C.M.; Makalowska I.; Brownstein M.J.; Krappmann D.; Scheidereit C.; Maayan C.; Axelrod F.B.; Gusella J.F.;
Am. J. Hum. Genet. 68:598-605(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT HSAN3 PRO-696; VARIANT SER-1072; 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; Familial dysautonomia is caused by mutations of the IKAP gene.
Anderson S.L.; Coli R.; Daly I.W.; Kichula E.A.; Rork M.J.; Volpi S.A.; Ekstein J.; Rubin B.Y.;
Am. J. Hum. Genet. 68:753-758(2001)
Cited for: VARIANT HSAN3 PRO-696; EFFECT ON PHOSPHORYLATION;
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.