UniProtKB/Swiss-Prot O95163: Variant p.Cys1072Ser

Elongator complex protein 1
Gene: ELP1
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Variant information Variant position:

1072 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Cysteine (C) to Serine (S) at position 1072 (C1072S, p.Cys1072Ser). 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:

Change from medium size and polar (C) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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:

Reduced interaction with ELP2; does not affect interaction with ELP3; does not affect dimerization. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs3204145 [ dbSNP | Ensembl ]

Sequence information Variant position:

1072 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1332 The length of the canonical sequence.
Location on the sequence:

LAGKLVEQRKHIDAAMVLEE C AQDYEEAVLLLLEGAAWEEA 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                         LAGKLVEQRKHIDAAMVLEECAQDYEEAVLLLLEGAAWEEA

Mouse                         LAGKLVEQRKHSEAATVLEQYAQDYEEAVLLLLEGSAWEEA

Rat                           LAGKLVEQRKHSEAATVLEQYALDYEEAVLLLLEGSAWEEA

Rabbit                        LAGKLAEQRKHSDAAIVLEQYTQDYEEAVLLLLEGAAWEEA

Xenopus laevis                VAGKLVEQRKQADAAVLLEQYAEDYEEAILLLLEGAHWEEA

Drosophila                    LVGPLQQQGRHMEAYELVKEHCQDRKRQFDVLLEGHLYS--

Baker's yeast                 LISSLTFEHRYVDAADIQLEYLDNVKEAVALYCKAYRYDIA

Fission yeast                 LASLCIEKREHCDAGSINLLYLSNPREAVIQMCKGSQYSEA

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 – 1332	Elongator complex protein 1
Region	885 – 1332	Mediates dimerization
Helix	1062 – 1073

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; The full-ORF clone resource of the German cDNA consortium.
Bechtel S.; Rosenfelder H.; Duda A.; Schmidt C.P.; Ernst U.; Wellenreuther R.; Mehrle A.; Schuster C.; Bahr A.; Bloecker H.; Heubner D.; Hoerlein A.; Michel G.; Wedler H.; Koehrer K.; Ottenwaelder B.; Poustka A.; Wiemann S.; Schupp I.;
BMC Genomics 8:399-399(2007)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] OF 961-1332; VARIANTS SER-1072 AND LEU-1158; 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;

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.