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UniProtKB/Swiss-Prot P26196: Variant p.Thr391Ile

Probable ATP-dependent RNA helicase DDX6
Gene: DDX6
Variant information

Variant position:  391
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Threonine (T) to Isoleucine (I) at position 391 (T391I, p.Thr391Ile).
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 (T) to medium size and hydrophobic (I)
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 IDDILF; decreased P-body assembly.
Any additional useful information about the variant.



Sequence information

Variant position:  391
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  483
The length of the canonical sequence.

Location on the sequence:   EHRNRVFHDFRNGLCRNLVC  T DLFTRGIDIQAVNVVINFDF
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                         EHRNRVFHDFRNGLCRNLVCTDLFTRGIDIQAVNVVINFDF

Mouse                         EHRNRVFHDFRNGLCRNLVCTDLFTRGIDIQAVNVVINFDF

Chicken                       EHRNRVFHDFRNGLCRNLVCTDLFTRGIDIQAVNVVINFDF

Xenopus laevis                EHRNRVFHDFRNGLCRNLVCTDLFTRGIDIQAVNVVINFDF

Xenopus tropicalis            EHRNRVFHDFRNGLCRNLVCTDLFTRGIDIQAVNVVINFDF

Drosophila                    AHRNRVFHDFRQGLCRNLVCSDLFTRGIDVQAVNVVINFDF

Slime mold                    AHRNRVFHDFRNGACRNLVSSDLFTRGIDIQDVNVVINFDF

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 – 483 Probable ATP-dependent RNA helicase DDX6
Domain 308 – 468 Helicase C-terminal
Region 307 – 483 RecA-like domain 2
Mutagenesis 386 – 386 R -> E. Abolished ability to regulate RNA metabolism.


Literature citations

Rare de novo missense variants in RNA helicase DDX6 cause intellectual disability and dysmorphic features and lead to P-body defects and RNA dysregulation.
Balak C.; Benard M.; Schaefer E.; Iqbal S.; Ramsey K.; Ernoult-Lange M.; Mattioli F.; Llaci L.; Geoffroy V.; Courel M.; Naymik M.; Bachman K.K.; Pfundt R.; Rump P.; Ter Beest J.; Wentzensen I.M.; Monaghan K.G.; McWalter K.; Richholt R.; Le Bechec A.; Jepsen W.; De Both M.; Belnap N.; Boland A.; Piras I.S.; Deleuze J.F.; Szelinger S.; Dollfus H.; Chelly J.; Muller J.; Campbell A.; Lal D.; Rangasamy S.; Mandel J.L.; Narayanan V.; Huentelman M.; Weil D.; Piton A.;
Am. J. Hum. Genet. 105:509-525(2019)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH LSM14A; LSM14B; EIF4ENIF1; PATL1; EDC3 AND EDC4; INVOLVEMENT IN IDDILF; VARIANTS IDDILF ARG-372; GLN-373; ARG-390; ILE-391 AND PRO-391; CHARACTERIZATION OF VARIANTS IDDILF GLN-373; ARG-390; ILE-391 AND PRO-391;

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.