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NM_022817.3(PER2):c.1984A>G (p.Ser662Gly) AND Advanced sleep phase syndrome 1

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 9, 2001
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000006717.5

Allele description [Variation Report for NM_022817.3(PER2):c.1984A>G (p.Ser662Gly)]

NM_022817.3(PER2):c.1984A>G (p.Ser662Gly)

Gene:
PER2:period circadian regulator 2 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q37.3
Genomic location:
Preferred name:
NM_022817.3(PER2):c.1984A>G (p.Ser662Gly)
HGVS:
  • NC_000002.12:g.238257003T>C
  • NG_012146.1:g.36564A>G
  • NM_022817.3:c.1984A>GMANE SELECT
  • NP_073728.1:p.Ser662Gly
  • NC_000002.11:g.239165644T>C
  • O15055:p.Ser662Gly
Protein change:
S662G; SER662GLY
Links:
UniProtKB: O15055#VAR_029080; OMIM: 603426.0001; dbSNP: rs121908635
NCBI 1000 Genomes Browser:
rs121908635
Molecular consequence:
  • NM_022817.3:c.1984A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Advanced sleep phase syndrome 1
Synonyms:
Familial advanced sleep phase syndrome 1
Identifiers:
MONDO: MONDO:0011442; MedGen: C3807327; Orphanet: 164736; OMIM: 604348

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000026908OMIM
no assertion criteria provided
Pathogenic
(Feb 9, 2001) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

An hPer2 phosphorylation site mutation in familial advanced sleep phase syndrome.

Toh KL, Jones CR, He Y, Eide EJ, Hinz WA, Virshup DM, Ptácek LJ, Fu YH.

Science. 2001 Feb 9;291(5506):1040-3.

PubMed [citation]
PMID:
11232563

Details of each submission

From OMIM, SCV000026908.4

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a 4-generation pedigree segregating autosomal dominant familial advanced sleep phase syndrome-1 (FASPS1; 604348), Toh et al. (2001) identified a complex banding pattern in exon 17 of the PER2 gene. Sequencing of this exon from affected individuals revealed 4 base changes. Three of the changes, an A-to-G substitution at nucleotide 2078, an A-to-G substitution at nucleotide 2114, and an A-to-G substitution at nucleotide 2117, occurred at wobble positions and were therefore synonymous mutations. One change, however, a 2106A-G transition that resulted in a ser662-to-gly (S662G) substitution, was not identified in 92 control individuals. The S662G change cosegregated with the FASPS phenotype in this family except in a small branch where the marker alleles were unlinked to chromosome 2q. The mutation was found to result in decreased phosphorylation by casein kinase I-epsilon.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022