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NM_000476.3(AK1):c.491A>G (p.Tyr164Cys) AND Hemolytic anemia due to adenylate kinase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Dec 1, 1997
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:
RCV000019927.28

Allele description [Variation Report for NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)]

NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)

Genes:
ST6GALNAC4-ST6GALNAC6-AK1:ST6GALNAC4-ST6GALNAC6-AK1 readthrough [Gene]
AK1:adenylate kinase 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
Preferred name:
NM_000476.3(AK1):c.491A>G (p.Tyr164Cys)
HGVS:
  • NC_000009.12:g.127868346T>C
  • NG_011792.1:g.14398A>G
  • NG_011792.2:g.14398A>G
  • NM_000476.3:c.491A>GMANE SELECT
  • NM_001318121.1:c.491A>G
  • NM_001318122.2:c.539A>G
  • NP_000467.1:p.Tyr164Cys
  • NP_001305050.1:p.Tyr164Cys
  • NP_001305051.1:p.Tyr180Cys
  • LRG_1187t1:c.491A>G
  • LRG_1187:g.14398A>G
  • LRG_1187p1:p.Tyr164Cys
  • NC_000009.11:g.130630625T>C
  • P00568:p.Tyr164Cys
Protein change:
Y164C; TYR164CYS
Links:
UniProtKB: P00568#VAR_055340; OMIM: 103000.0003; dbSNP: rs137853203
NCBI 1000 Genomes Browser:
rs137853203
Molecular consequence:
  • NM_000476.3:c.491A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318121.1:c.491A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001318122.2:c.539A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Hemolytic anemia due to adenylate kinase deficiency
Identifiers:
MONDO: MONDO:0012967; MedGen: C2675459; Orphanet: 86817; OMIM: 612631

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000040225OMIM
no assertion criteria provided
Pathogenic
(Dec 1, 1997) 		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

Severe erythrocyte adenylate kinase deficiency due to homozygous A-->G substitution at codon 164 of human AK1 gene associated with chronic haemolytic anaemia.

Qualtieri A, Pedace V, Bisconte MG, Bria M, Gulino B, Andreoli V, Brancati C.

Br J Haematol. 1997 Dec;99(4):770-6.

PubMed [citation]
PMID:
9432020

Details of each submission

From OMIM, SCV000040225.2

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

Description

In an Italian child with hemolytic anemia and undetectable erythrocyte adenylate kinase activity (612631), Qualtieri et al. (1997) identified homozygosity for an A-to-G transition in exon 6 of the AK1 gene, resulting in a tyr164-to-cys (Y164C) substitution. Her parents and brother were heterozygous for the mutation and had 50% normal AK1 activity.

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

Last Updated: Apr 23, 2022