Home  |  Contact

UniProtKB/Swiss-Prot Q9C0J9: Variant p.Pro384Gln

Class E basic helix-loop-helix protein 41
Gene: BHLHE41
Variant information

Variant position:  384
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 Proline (P) to Glutamine (Q) at position 384 (P384Q, p.Pro384Gln).
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 hydrophobic (P) 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

Polymorphism:  Genetic variations in BHLHE41 are associated with the familial natural short sleep 1 (FNSS1) phenotype, an autosomal dominant trait [MIM:612975]. Individuals with this trait require less sleep in any 24-hour period than is typical for their age group.
Additional information on the polymorphism described.

Variant description:  Associated with short sleep phenotype; heterogeneous phenotype; increases inhibition of CLOCK-ARNTL/BMAL1 and NPAS2/BMAL1 transactivation activities.
Any additional useful information about the variant.

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

Sequence information

Variant position:  384
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  482
The length of the canonical sequence.

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.


Mouse                         QPWLDKSGLDKYLYPAAAA-PFPLLYPGIP--------AAA

Rat                           QPWLDKSGLDKYLYPAAAA-PFPLLYPGIP--------AAA

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.

Chain 1 – 482 Class E basic helix-loop-helix protein 41
Compositional bias 297 – 431 Ala/Gly-rich

Literature citations

A novel BHLHE41 variant is associated with short sleep and resistance to sleep deprivation in humans.
Pellegrino R.; Kavakli I.H.; Goel N.; Cardinale C.J.; Dinges D.F.; Kuna S.T.; Maislin G.; Van Dongen H.P.; Tufik S.; Hogenesch J.B.; Hakonarson H.; Pack A.I.;
Sleep 37:1327-1336(2014)

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.