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UniProtKB/Swiss-Prot Q7L2E3: Variant p.Arg782Trp

ATP-dependent RNA helicase DHX30
Gene: DHX30
Variant information

Variant position:  782
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Arginine (R) to Tryptophan (W) at position 782 (R782W, p.Arg782Trp).
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 large size and aromatic (W)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -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

Involvement in disease:  Neurodevelopmental disorder with severe motor impairment and absent language (NEDMIAL) [MIM:617804]: An autosomal dominant neurodevelopmental disorder characterized by global developmental delay, intellectual disability, severe speech impairment and gait abnormalities. {ECO:0000269|PubMed:28327206, ECO:0000269|PubMed:29100085}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In NEDMIAL; changed localization to stress granules; decreased RNA-dependent ATPase activity; by inducing the formation of stress granules probably indirectly decreases global protein synthesis.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  782
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1194
The length of the canonical sequence.

Location on the sequence:   KVSCLETVWVSRANVIQRRG  R AGRCQSGFAYHLFPRSRLEK
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                         KVSCLETVWVSRANVIQRRGRAGRCQSGFAYHLFPRSRLEK

Mouse                         KVSCLETVWVSRANVIQRRGRAGRCQSGFAYHLFPRSRLEK

Rat                           KVSCLETVWVSRANVIQRRGRAGRCQSGFAYHLFPRSRLEK

Bovine                        KVSCLETVWVSRANVIQRRGRAGRCQSGFAYHLFPRSRLEK

Chicken                       KVSCLETVWVSKSNVVQRRGRAGRCQSGFAYHLFPRSRLDK

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.

TypePositionsDescription
Chain 1 – 1194 ATP-dependent RNA helicase DHX30
Domain 654 – 827 Helicase C-terminal


Literature citations

De Novo Missense Mutations in DHX30 Impair Global Translation and Cause a Neurodevelopmental Disorder.
Lessel D.; Schob C.; Kuery S.; Reijnders M.R.F.; Harel T.; Eldomery M.K.; Coban-Akdemir Z.; Denecke J.; Edvardson S.; Colin E.; Stegmann A.P.A.; Gerkes E.H.; Tessarech M.; Bonneau D.; Barth M.; Besnard T.; Cogne B.; Revah-Politi A.; Strom T.M.; Rosenfeld J.A.; Yang Y.; Posey J.E.; Immken L.; Oundjian N.; Helbig K.L.; Meeks N.; Zegar K.; Morton J.; Schieving J.H.; Claasen A.; Huentelman M.; Narayanan V.; Ramsey K.; Brunner H.G.; Elpeleg O.; Mercier S.; Bezieau S.; Kubisch C.; Kleefstra T.; Kindler S.; Lupski J.R.; Kreienkamp H.J.;
Am. J. Hum. Genet. 101:716-724(2017)
Cited for: INVOLVEMENT IN NEDMIAL; VARIANTS NEDMIAL HIS-493; ARG-562; ASP-781; TRP-782; CYS-785 AND HIS-785; CHARACTERIZATION OF VARIANTS NEDMIAL HIS-493; ARG-562; ASP-781; TRP-782; CYS-785 AND HIS-785; FUNCTION; CATALYTIC ACTIVITY; SUBCELLULAR LOCATION;

Lessons learned from additional research analyses of unsolved clinical exome cases.
Eldomery M.K.; Coban-Akdemir Z.; Harel T.; Rosenfeld J.A.; Gambin T.; Stray-Pedersen A.; Kuery S.; Mercier S.; Lessel D.; Denecke J.; Wiszniewski W.; Penney S.; Liu P.; Bi W.; Lalani S.R.; Schaaf C.P.; Wangler M.F.; Bacino C.A.; Lewis R.A.; Potocki L.; Graham B.H.; Belmont J.W.; Scaglia F.; Orange J.S.; Jhangiani S.N.; Chiang T.; Doddapaneni H.; Hu J.; Muzny D.M.; Xia F.; Beaudet A.L.; Boerwinkle E.; Eng C.M.; Plon S.E.; Sutton V.R.; Gibbs R.A.; Posey J.E.; Yang Y.; Lupski J.R.;
Genome Med. 9:26-26(2017)
Cited for: VARIANTS NEDMIAL HIS-493; ARG-562 AND TRP-782;

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.