U.S. flag

An official website of the United States government

NM_000022.4(ADA):c.631C>T (p.Arg211Cys) AND Partial adenosine deaminase deficiency

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Sep 1, 1994
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:
RCV000002043.2

Allele description [Variation Report for NM_000022.4(ADA):c.631C>T (p.Arg211Cys)]

NM_000022.4(ADA):c.631C>T (p.Arg211Cys)

Gene:
ADA:adenosine deaminase [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
20q13.12
Genomic location:
Preferred name:
NM_000022.4(ADA):c.631C>T (p.Arg211Cys)
Other names:
NM_000022.4(ADA):c.631C>T
HGVS:
  • NC_000020.11:g.44623054G>A
  • NG_007385.1:g.33682C>T
  • NM_000022.4:c.631C>TMANE SELECT
  • NM_001322050.2:c.226C>T
  • NM_001322051.2:c.607-124C>T
  • NP_000013.2:p.Arg211Cys
  • NP_001308979.1:p.Arg76Cys
  • LRG_16t1:c.631C>T
  • LRG_16:g.33682C>T
  • NC_000020.10:g.43251695G>A
  • NM_000022.2:c.631C>T
  • NM_000022.3:c.631C>T
  • NR_136160.2:n.723C>T
  • P00813:p.Arg211Cys
Protein change:
R211C; ARG211CYS
Links:
UniProtKB: P00813#VAR_002231; UniProtKB/Swiss-Prot: VAR_002231; OMIM: 608958.0014; dbSNP: rs121908740
NCBI 1000 Genomes Browser:
rs121908740
Molecular consequence:
  • NM_001322051.2:c.607-124C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_000022.4:c.631C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001322050.2:c.226C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NR_136160.2:n.723C>T - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Partial adenosine deaminase deficiency
Synonyms:
PARTIAL ADA DEFICIENCY
Identifiers:
MedGen: C1863239

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000022201OMIM
no assertion criteria provided
Pathogenic
(Sep 1, 1994) 		germlineliterature only

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

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

Citations

PubMed

Adult onset immunodeficiency caused by inherited adenosine deaminase deficiency.

Shovlin CL, Simmonds HA, Fairbanks LD, Deacock SJ, Hughes JM, Lechler RI, Webster AD, Sun XM, Webb JC, Soutar AK.

J Immunol. 1994 Sep 1;153(5):2331-9.

PubMed [citation]
PMID:
8051429

Hot spot mutations in adenosine deaminase deficiency.

Hirschhorn R, Tzall S, Ellenbogen A.

Proc Natl Acad Sci U S A. 1990 Aug;87(16):6171-5.

PubMed [citation]
PMID:
2166947
PMCID:
PMC54494

Details of each submission

From OMIM, SCV000022201.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (2)

Description

In a patient with partial ADA deficiency (102700), Hirschhorn et al. (1990) identified compound heterozygosity for 2 mutations in the ADA gene: a 631C-T transition, resulting in an arg211-to-cys (R211C) substitution, and L107P (608958.0013). The R211C mutant allele resulted in an abnormally acidic protein with 8% normal activity in lymphoid cells.

In 2 sisters with adult-onset ADA deficiency, Shovlin et al. (1994) identified compound heterozygosity for 2 mutations in the ADA gene. The paternal allele contained a deletion resulting from homologous recombination between 2 Alu elements, predicting a null phenotype. The maternal allele had a C-to-T transition in a CpG dinucleotide that changed the codon for arginine-211, which lies in a conserved sequence close to the active site, to cysteine. This mutation had previously been observed in a child thought to have partial ADA deficiency by Hirschhorn et al. (1990) (608958.0013). Shovlin et al. (1994) suggested that immune function in children with partial ADA deficiency may deteriorate with time.

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

Last Updated: Sep 29, 2024