UniProtKB/Swiss-Prot Q13564: Variant p.Arg85Gln

NEDD8-activating enzyme E1 regulatory subunit
Gene: NAE1
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Variant information Variant position:

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

US 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 Arginine (R) to Glutamine (Q) at position 85 (R85Q, p.Arg85Gln). 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 large size and basic (R) to medium size and polar (Q) 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:

In NEDFIH; uncertain significance; decreased protein abundance in homozygous patient cells; patient cells show a decreased amount of neddylated proteins. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs752555475 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

VSGEDAGNNFFLQRSSIGKN R AEAAMEFLQELNSDVSGSFV 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                         VSGEDAGNNFFLQRSSIGKNRAEAAMEFLQELNSDVSGSF-V

Mouse                         VSGEDAGNNFFLQKSSIGKNRAQAAMEFLQELNSDVSGSF-

Rat                           VSGEDVGNNFFLQKCSIGKNRAQAAMEFLQELNSDVSGSF-

Chicken                       VSGEDVGNNFFLQKSHIGQSRAQSATELLQELNNDVSGNF-

Xenopus laevis                VAGEDVGNNFFLQKESIGKNRAQTSMELLQELNDDVTGNF-

Zebrafish                     VSGEDVGNNFFLSSSAIGKNRAQAATELLQELNSDVSGNF-

Caenorhabditis elegans        VEQADIGQNFFLHADDIGRSRAEATLEKLTELNPSVSGSA-

Drosophila                    VKEEDLGNNFFLDSSYLGKSKALACMQLLQELNPDVNGDY-

Slime mold                    VTESDLGNNFFVERSSLGKPRATVVCELLRELNDRVKGFS-

Baker's yeast                 VECAVQSGSLFL-------------AELKKDLEPLASKQLE

Fission yeast                 VDFSMDGMNFFIQYDQEGKSRARCTASLLQQLNPNVEMEY-

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	2 – 534	NEDD8-activating enzyme E1 regulatory subunit
Alternative sequence	1 – 89	Missing. In isoform 3.
Helix	85 – 94

Literature citations
Bi-allelic variants in NAE1 cause intellectual disability, ischiopubic hypoplasia, stress-mediated lymphopenia and neurodegeneration.
Muffels I.J.J.; Schene I.F.; Rehmann H.; Massink M.P.G.; van der Wal M.M.; Bauder C.; Labeur M.; Armando N.G.; Lequin M.H.; Houben M.L.; Giltay J.C.; Haitjema S.; Huisman A.; Vansenne F.; Bluvstein J.; Pappas J.; Shailee L.V.; Zarate Y.A.; Mokry M.; van Haaften G.W.; Nieuwenhuis E.E.S.; Refojo D.; van Wijk F.; Fuchs S.A.; van Hasselt P.M.;
Am. J. Hum. Genet. 110:146-160(2023)
Cited for: INVOLVEMENT IN NEDFIH; VARIANTS NEDFIH PHE-49; GLN-85; TRP-294 AND GLN-430; CHARACTERIZATION OF VARIANT NEDFIH GLN-85; FUNCTION;

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.