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NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys) AND PI I

Germline classification:
other (1 submission)
Last evaluated:
Jul 15, 2016
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:
RCV000019575.5

Allele description [Variation Report for NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)]

NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)

Gene:
SERPINA1:serpin family A member 1 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
14q32.13
Genomic location:
Preferred name:
NM_001127701.1(SERPINA1):c.187C>T (p.Arg63Cys)
Other names:
R39C; SERPINA1, ARG39CYS ON M1V
HGVS:
  • NC_000014.9:g.94383051G>A
  • NG_008290.1:g.12642C>T
  • NM_000295.5:c.187C>TMANE SELECT
  • NM_001002235.3:c.187C>T
  • NM_001002236.3:c.187C>T
  • NM_001127700.2:c.187C>T
  • NM_001127701.2:c.187C>T
  • NM_001127702.2:c.187C>T
  • NM_001127703.2:c.187C>T
  • NM_001127704.2:c.187C>T
  • NM_001127705.2:c.187C>T
  • NM_001127706.2:c.187C>T
  • NM_001127707.2:c.187C>T
  • NP_000286.3:p.Arg63Cys
  • NP_001002235.1:p.Arg63Cys
  • NP_001002236.1:p.Arg63Cys
  • NP_001121172.1:p.Arg63Cys
  • NP_001121173.1:p.Arg63Cys
  • NP_001121174.1:p.Arg63Cys
  • NP_001121175.1:p.Arg63Cys
  • NP_001121176.1:p.Arg63Cys
  • NP_001121177.1:p.Arg63Cys
  • NP_001121178.1:p.Arg63Cys
  • NP_001121179.1:p.Arg63Cys
  • LRG_575t1:c.187C>T
  • LRG_575:g.12642C>T
  • LRG_575p1:p.Arg63Cys
  • NC_000014.8:g.94849388G>A
  • NM_000295.4:c.187C>T
  • P01009:p.Arg63Cys
Protein change:
R63C; ARG39CYS
Links:
UniProtKB: P01009#VAR_006981; OMIM: 107400.0018; dbSNP: rs28931570
NCBI 1000 Genomes Browser:
rs28931570
Molecular consequence:
  • NM_000295.5:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.187C>T - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]

Condition(s)

Name:
PI I
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039872OMIM
no assertion criteria provided
other
(Jul 15, 2016) 		germlineliterature only

PubMed (3)
[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

Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys).

Graham A, Kalsheker NA, Newton CR, Bamforth FJ, Powell SJ, Markham AF.

Hum Genet. 1989 Dec;84(1):55-8.

PubMed [citation]
PMID:
2606478

The alpha 1-antitrypsin gene and its deficiency states.

Crystal RG.

Trends Genet. 1989 Dec;5(12):411-7. Review.

PubMed [citation]
PMID:
2696185
See all PubMed Citations (3)

Details of each submission

From OMIM, SCV000039872.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (3)

Description

By gene amplification and direct DNA sequencing, Graham et al. (1989) identified this mutation, CGC to TGC, in a compound heterozygote. Homozygotes are at no risk of emphysema, but compound heterozygotes with Z or a null allele have a mildly increased risk (Crystal, 1989). In 1 individual and 3 independent families, Seri et al. (1992) confirmed that the I variant resulted from a CGC (arg)-to-TGC (cys) transition at codon 39 within exon 2.

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

Last Updated: Oct 20, 2024