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NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) AND PI M(PROCIDA)

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:
RCV000019571.11

Allele description [Variation Report for NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)]

NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro)

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.194T>C (p.Leu65Pro)
Other names:
L41P; SERPINA1, LEU41PRO ON M1V
HGVS:
  • NC_000014.9:g.94383044A>G
  • NG_008290.1:g.12649T>C
  • NM_000295.5:c.194T>CMANE SELECT
  • NM_001002235.3:c.194T>C
  • NM_001002236.3:c.194T>C
  • NM_001127700.2:c.194T>C
  • NM_001127701.2:c.194T>C
  • NM_001127702.2:c.194T>C
  • NM_001127703.2:c.194T>C
  • NM_001127704.2:c.194T>C
  • NM_001127705.2:c.194T>C
  • NM_001127706.2:c.194T>C
  • NM_001127707.2:c.194T>C
  • NP_000286.3:p.Leu65Pro
  • NP_001002235.1:p.Leu65Pro
  • NP_001002236.1:p.Leu65Pro
  • NP_001121172.1:p.Leu65Pro
  • NP_001121173.1:p.Leu65Pro
  • NP_001121174.1:p.Leu65Pro
  • NP_001121175.1:p.Leu65Pro
  • NP_001121176.1:p.Leu65Pro
  • NP_001121177.1:p.Leu65Pro
  • NP_001121178.1:p.Leu65Pro
  • NP_001121179.1:p.Leu65Pro
  • LRG_575t1:c.194T>C
  • LRG_575:g.12649T>C
  • LRG_575p1:p.Leu65Pro
  • NC_000014.8:g.94849381A>G
  • NM_000295.4:c.194T>C
  • P01009:p.Leu65Pro
Protein change:
L65P; LEU41PRO
Links:
UniProtKB: P01009#VAR_006982; OMIM: 107400.0016; dbSNP: rs28931569
NCBI 1000 Genomes Browser:
rs28931569
Molecular consequence:
  • NM_000295.5:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002235.3:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001002236.3:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127700.2:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127701.2:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127702.2:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127703.2:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127704.2:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127705.2:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127706.2:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001127707.2:c.194T>C - missense variant - [Sequence Ontology: SO:0001583]
Functional consequence:
effect on catalytic protein function [Variation Ontology: 0008]

Condition(s)

Name:
PI M(PROCIDA)
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000039868OMIM
no assertion criteria provided
other
(Jul 15, 2016) 		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

Characterization of the gene and protein of the alpha 1-antitrypsin "deficiency" allele Mprocida.

Takahashi H, Nukiwa T, Satoh K, Ogushi F, Brantly M, Fells G, Stier L, Courtney M, Crystal RG.

J Biol Chem. 1988 Oct 25;263(30):15528-34.

PubMed [citation]
PMID:
3262617

The alpha 1-antitrypsin gene and its deficiency states.

Crystal RG.

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

PubMed [citation]
PMID:
2696185

Details of each submission

From OMIM, SCV000039868.3

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

Description

Takahashi et al. (1988) showed that M(Procida) has a substitution of proline for leucine at position 41, resulting from a change of codon CTG to CCG. The rare mutant protein shows somewhat reduced catalytic activity; its concentration is low in plasma, apparently because of instability and resulting intracellular degradation before secretion. Homozygotes have a high risk of emphysema (Crystal, 1989).

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

Last Updated: May 12, 2024