The SERPINA1 c.227_229delTCT (p.Phe76del) variant is an inframe deletion variant which is often described in the literature as p.Phe51del, p.Phe52del, PI*MMalton, or MMalton. The p.Phe76del variant has been reported in at least seven studies in 16 patients with reduced serum alpha-1 antitrypsin (AAT) concentrations and other phenotypic features consistent with alpha-1 antitrypsin deficiency, including in one in a homozygous state and in 15 in a compound heterozygous state (Sproule et al. 1983; Allen et al 1986; Curiek et al. 1989; Frazier et al. 1989; Lara et al. 2013; Suh-Lailam et al. 2014; Beletic et al 2014). The p.Phe76del variant has also been found in a heterozygous state in at least three individuals with reduced alpha-1 antitrypsin concentrations and normal pulmonary function. The variant was absent from 311 controls and is reported at a frequency of 0.00069 in the East Asian population of the Exome Aggregation Consortium. Curiel et al. (1989) demonstrated abnormal intracellular accumulation of newly synthesized AAT protein in an individual homozygous for the p.Phe76del variant, with inflammation, mild fibrosis, and intrahepatocyte AAT protein accumulation revealed on liver biopsy. Furthermore, functional analysis by retroviral gene transfer of AAT cDNA with the variant into murine cells demonstrated that abnormal intracellular accumulation of AAT protein occurred (Curiel et al 1989). Based on the collective evidence, the p.Phe76del variant is classified as pathogenic for alpha-1 antitrypsin deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
ClinVar Genomic variation as it relates to human health
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
Germline
Classification
Help
The aggregate germline classification for this variant, typically for a monogenic or Mendelian disorder as in the ACMG/AMP guidelines, or for response to a drug. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the aggregate classification.
(11)
Help
Stars represent the aggregate review status, or the level of review supporting the aggregate germline classification for this VCV record. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. The number of submissions which contribute to this review status is shown in parentheses.
Pathogenic
11
criteria provided, multiple submitters, no conflicts
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Variant Details
This variant is part of a Haplotype
- Identifiers
-
NM_000295.5(SERPINA1):c.221TCT[2] (p.Phe76del)
Variation ID: 315028 Accession: VCV000315028.26
- Type and length
-
Microsatellite, 3 bp
- Location
-
Cytogenetic: 14q32.13 14: 94383009-94383011 (GRCh38) [ NCBI UCSC ] 14: 94849346-94849348 (GRCh37) [ NCBI UCSC ]
- Timeline in ClinVar
-
First in ClinVar Help The date this variant first appeared in ClinVar with each type of classification.
Last submission Help The date of the most recent submission for each type of classification for this variant.
Last evaluated Help The most recent date that a submitter evaluated this variant for each type of classification.
Germline Nov 14, 2015 Oct 8, 2024 Feb 22, 2024 - HGVS
-
... more HGVS ... less HGVSNucleotide Protein Molecular
consequenceNM_000295.5:c.221TCT[2] MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NP_000286.3:p.Phe76del inframe deletion NM_000295.5:c.227_229del MANE Select Help Transcripts from the Matched Annotation from the NCBI and EMBL-EBI (MANE) collaboration.
NM_000295.4:c.227_229delTCT NM_001002235.3:c.221TCT[2] NP_001002235.1:p.Phe76del inframe deletion NM_001002236.3:c.221TCT[2] NP_001002236.1:p.Phe76del inframe deletion NM_001127700.2:c.221TCT[2] NP_001121172.1:p.Phe76del inframe deletion NM_001127701.2:c.221TCT[2] NP_001121173.1:p.Phe76del inframe deletion NM_001127702.2:c.221TCT[2] NP_001121174.1:p.Phe76del inframe deletion NM_001127703.2:c.221TCT[2] NP_001121175.1:p.Phe76del inframe deletion NM_001127704.2:c.221TCT[2] NP_001121176.1:p.Phe76del inframe deletion NM_001127705.2:c.221TCT[2] NP_001121177.1:p.Phe76del inframe deletion NM_001127706.2:c.221TCT[2] NP_001121178.1:p.Phe76del inframe deletion NM_001127707.2:c.221TCT[2] NP_001121179.1:p.Phe76del inframe deletion NC_000014.9:g.94383009AGA[2] NC_000014.8:g.94849346AGA[2] NG_008290.1:g.12676TCT[2] LRG_575:g.12676TCT[2] LRG_575t1:c.221TCT[2] LRG_575p1:p.Phe76del - Protein change
- F76del
- Other names
-
Phe52del
Mmalton
PI M(MALTON)
SERPINA1, PHE52DEL ON M2
F52del
- Canonical SPDI
- NC_000014.9:94383008:AGAAGAAGA:AGAAGA
-
Functional
consequence HelpThe effect of the variant on RNA or protein function, based on experimental evidence from submitters.
- -
-
Global minor allele
frequency (GMAF) HelpThe global minor allele frequency calculated by the 1000 Genomes Project. The minor allele at this location is indicated in parentheses and may be different from the allele represented by this VCV record.
- -
-
Allele frequency
Help
The frequency of the allele represented by this VCV record.
- -
- Links
Genes
| Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation |
Variation Viewer
Help
Links to Variation Viewer, a genome browser to view variation data from NCBI databases. |
Related variants | ||
|---|---|---|---|---|---|---|
| HI score
Help
The haploinsufficiency score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
TS score
Help
The triplosensitivity score for the gene, curated by ClinGen’s Dosage Sensitivity Curation task team. |
Within gene
Help
The number of variants in ClinVar that are contained within this gene, with a link to view the list of variants. |
All
Help
The number of variants in ClinVar for this gene, including smaller variants within the gene and larger CNVs that overlap or fully contain the gene. |
|||
| SERPINA1 | - | - |
GRCh38 GRCh38 GRCh37 |
483 | 518 | |
Conditions - Germline
| Condition
Help
The condition for this variant-condition (RCV) record in ClinVar. |
Classification
Help
The aggregate germline classification for this variant-condition (RCV) record in ClinVar. The number of submissions that contribute to this aggregate classification is shown in parentheses. (# of submissions) |
Review status
Help
The aggregate review status for this variant-condition (RCV) record in ClinVar. This value is calculated by NCBI based on data from submitters. Read our rules for calculating the review status. |
Last evaluated
Help
The most recent date that a submitter evaluated this variant for the condition. |
Variation/condition record
Help
The RCV accession number, with most recent version number, for the variant-condition record, with a link to the RCV web page. |
|---|---|---|---|---|
|
PI M(MALTON)
|
other (1) |
no assertion criteria provided
|
Jul 15, 2016 | RCV000019568.11 |
| Pathogenic (6) |
criteria provided, multiple submitters, no conflicts
|
Feb 22, 2024 | RCV000262058.30 | |
| Pathogenic (3) |
criteria provided, single submitter
|
Dec 8, 2017 | RCV000594562.14 | |
|
SERPINA1-related disorder
|
Pathogenic (1) |
no assertion criteria provided
|
Jul 10, 2024 | RCV003417992.6 |
Submissions - Germline
| Classification
Help
The submitted germline classification for each SCV record. (Last evaluated) |
Review status
Help
Stars represent the review status, or the level of review supporting the submitted (SCV) record. This value is calculated by NCBI based on data from the submitter. Read our rules for calculating the review status. This column also includes a link to the submitter’s assertion criteria if provided, and the collection method. (Assertion criteria) |
Condition
Help
The condition for the classification, provided by the submitter for this submitted (SCV) record. This column also includes the affected status and allele origin of individuals observed with this variant. |
Submitter
Help
The submitting organization for this submitted (SCV) record. This column also includes the SCV accession and version number, the date this SCV first appeared in ClinVar, and the date that this SCV was last updated in ClinVar. |
More information
Help
This column includes more information supporting the classification, including citations, the comment on classification, and detailed evidence provided as observations of the variant by the submitter. |
|
|---|---|---|---|---|---|
|
Pathogenic
(Dec 08, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
not provided
Affected status: unknown
Allele origin:
germline
|
Eurofins Ntd Llc (ga)
Accession: SCV000704705.2
First in ClinVar: Apr 02, 2018 Last updated: Dec 15, 2018 |
Number of individuals with the variant: 1
Sex: mixed
|
|
|
Pathogenic
(Apr 27, 2017)
|
criteria provided, single submitter
Method: clinical testing
|
Alpha-1-antitrypsin deficiency
Affected status: unknown
Allele origin:
germline
|
Illumina Laboratory Services, Illumina
Accession: SCV000389657.3
First in ClinVar: Dec 06, 2016 Last updated: May 24, 2019 |
Comment:
The SERPINA1 c.227_229delTCT (p.Phe76del) variant is an inframe deletion variant which is often described in the literature as p.Phe51del, p.Phe52del, PI*MMalton, or MMalton. The p.Phe76del … (more)
The SERPINA1 c.227_229delTCT (p.Phe76del) variant is an inframe deletion variant which is often described in the literature as p.Phe51del, p.Phe52del, PI*MMalton, or MMalton. The p.Phe76del variant has been reported in at least seven studies in 16 patients with reduced serum alpha-1 antitrypsin (AAT) concentrations and other phenotypic features consistent with alpha-1 antitrypsin deficiency, including in one in a homozygous state and in 15 in a compound heterozygous state (Sproule et al. 1983; Allen et al 1986; Curiek et al. 1989; Frazier et al. 1989; Lara et al. 2013; Suh-Lailam et al. 2014; Beletic et al 2014). The p.Phe76del variant has also been found in a heterozygous state in at least three individuals with reduced alpha-1 antitrypsin concentrations and normal pulmonary function. The variant was absent from 311 controls and is reported at a frequency of 0.00069 in the East Asian population of the Exome Aggregation Consortium. Curiel et al. (1989) demonstrated abnormal intracellular accumulation of newly synthesized AAT protein in an individual homozygous for the p.Phe76del variant, with inflammation, mild fibrosis, and intrahepatocyte AAT protein accumulation revealed on liver biopsy. Furthermore, functional analysis by retroviral gene transfer of AAT cDNA with the variant into murine cells demonstrated that abnormal intracellular accumulation of AAT protein occurred (Curiel et al 1989). Based on the collective evidence, the p.Phe76del variant is classified as pathogenic for alpha-1 antitrypsin deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. (less)
|
|
|
Pathogenic
(Nov 20, 2015)
|
criteria provided, single submitter
Method: clinical testing
|
Alpha-1-antitrypsin deficiency
Affected status: unknown
Allele origin:
unknown
|
Counsyl
Accession: SCV000485286.2
First in ClinVar: Jan 04, 2017 Last updated: Dec 24, 2022 |
|
|
|
Pathogenic
(Dec 30, 2023)
|
criteria provided, single submitter
Method: clinical testing
|
Alpha-1-antitrypsin deficiency
Affected status: unknown
Allele origin:
germline
|
Labcorp Genetics (formerly Invitae), Labcorp
Accession: SCV000818989.7
First in ClinVar: Oct 10, 2018 Last updated: Feb 20, 2024 |
Comment:
This variant, c.227_229del, results in the deletion of 1 amino acid(s) of the SERPINA1 protein (p.Phe76del), but otherwise preserves the integrity of the reading frame. … (more)
This variant, c.227_229del, results in the deletion of 1 amino acid(s) of the SERPINA1 protein (p.Phe76del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775982338, gnomAD 0.04%). This variant has been observed in individuals with alpha-1-antitrypsin deficiency (AATD) (PMID: 2788166, 3491442, 6600898, 15744045, 22291048, 24183282, 27296815, 27882547). It has also been observed to segregate with disease in related individuals. This variant is also known as PI*Mmalton or Phe52del. ClinVar contains an entry for this variant (Variation ID: 315028). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects SERPINA1 function (PMID: 2788166). For these reasons, this variant has been classified as Pathogenic. (less)
|
|
|
Pathogenic
(Feb 22, 2024)
|
criteria provided, single submitter
Method: clinical testing
|
Alpha-1-antitrypsin deficiency
Affected status: unknown
Allele origin:
unknown
|
Baylor Genetics
Accession: SCV004203117.2
First in ClinVar: Dec 30, 2023 Last updated: Jun 17, 2024 |
|
|
|
other
(Jul 15, 2016)
|
no assertion criteria provided
Method: literature only
|
PI M(MALTON)
Affected status: not provided
Allele origin:
germline
|
OMIM
Accession: SCV000039865.2
First in ClinVar: Apr 04, 2013 Last updated: Jul 19, 2016 |
Comment on evidence:
Liver disease, as well as emphysema, has been described in patients with the rare PI*M(Malton) allele. Fraizer et al. (1989) studied the molecular defect in … (more)
Liver disease, as well as emphysema, has been described in patients with the rare PI*M(Malton) allele. Fraizer et al. (1989) studied the molecular defect in M(Malton), a deficiency allele which, like the Z allele, is associated with hepatocyte inclusions and impairs secretion. They found that the M(Malton) allele contains a deletion of the codon for 1 of the 2 adjacent phenylalanine residues (amino acid 51 or 52 of the mature protein). Judging from the haplotype data, the M(Malton) mutation must have derived from the normal M2 allele. Deletion of the 1 amino acid would be expected to shorten 1 strand of the beta-sheet, B6, apparently preventing normal processing and secretion. Curiel et al. (1989) also showed that the M(Malton) allele differs from the normal M2 allele by deletion of the entire codon (TTC) for residue phe52. They demonstrated abnormal intracellular accumulation of newly synthesized AAT protein in a homozygote who also showed, on liver biopsy, inflammation, mild fibrosis, and intrahepatocyte accumulation of the protein. Furthermore, Curiel et al. (1989) showed by retroviral gene transfer of AAT cDNA with the M(Malton) phe52 deletion into murine cells that abnormal accumulation of the newly synthesized protein occurred. This provides further evidence that abnormal intrahepatocyte AAT accumulation is responsible for the liver injury. By means of gene amplification and direct DNA sequencing, Graham et al. (1989) identified the same mutation, pointing out that it could be either phenylalanine-51 or phenylalanine-52 that is deleted. (less)
|
|
|
Pathogenic
(Dec 08, 2014)
|
no assertion criteria provided
Method: curation
|
Alpha-1-antitrypsin deficiency
Affected status: yes
Allele origin:
germline
|
Department of Laboratory Medicine and Genetics, Trillium Health Partners Credit Valley Hospital
Accession: SCV000608307.1
First in ClinVar: Oct 26, 2017 Last updated: Oct 26, 2017 |
Comment:
amino acid deletion
Clinical Features:
emphysema (present) , COPD (present)
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001978544.1 First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
|
|
|
Pathogenic
(-)
|
no assertion criteria provided
Method: clinical testing
|
not provided
Affected status: yes
Allele origin:
germline
|
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center
Additional submitter:
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen
Study: VKGL Data-share Consensus
Accession: SCV001980309.1 First in ClinVar: Oct 16, 2021 Last updated: Oct 16, 2021 |
|
|
|
Pathogenic
(Jul 10, 2024)
|
no assertion criteria provided
Method: clinical testing
|
SERPINA1-related condition
Affected status: unknown
Allele origin:
germline
|
PreventionGenetics, part of Exact Sciences
Accession: SCV004114447.3
First in ClinVar: Nov 20, 2023 Last updated: Oct 08, 2024 |
Comment:
The SERPINA1 c.227_229delTCT variant is predicted to result in an in-frame deletion (p.Phe76del). This variant, also described as p.Phe52del and the PI*Mmalton allele, has been … (more)
The SERPINA1 c.227_229delTCT variant is predicted to result in an in-frame deletion (p.Phe76del). This variant, also described as p.Phe52del and the PI*Mmalton allele, has been reported in the homozygous and compound heterozygous states to be pathogenic for alpha-1-antitrypsin deficiency (Curiel et al. 1989. PubMed ID: 2788166; Fraizer et al. 1989. PubMed ID: 2786335; Rodriguez-Frias et al. 2012. PubMed ID: 22291048; Silva et al. 2016. PubMed ID: 27296815). This variant produces a poorly folded protein and is associated with an increased risk of pulmonary emphysema and liver disease (Curiel et al. 1989. PubMed ID: 2788166; Giacopuzzi et al. 2018. PubMed ID: 29882371; Silva et al. 2016. PubMed ID: 27296815). The mode of inheritance of SERPINA1-related disease is complicated by co-dominance. The PI*Mmalton allele has been detected in the heterozygous state in healthy individuals of advanced age; however, heterozygotes are at an increased risk of respiratory complications, which is elevated by cigarette smoke exposure (Aiello et al. 2020. PubMedID 32076552). A homozygous individual was reported with liver fibrosis and cirhosis, and compound heterozygosity with the Z allele was associated with chronic pulmonary obstructive disease (Joly et al. 2015. PubMed ID: 26446624). This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as pathogenic. (less)
|
|
|
not provided
(-)
|
no classification provided
Method: literature only
|
Alpha-1-antitrypsin deficiency
Affected status: yes
Allele origin:
germline
|
GeneReviews
Accession: SCV000256614.2
First in ClinVar: Nov 14, 2015 Last updated: Oct 01, 2022 |
|
|
| click to load more click to collapse | |||||
Comment:
Comment:
This variant, c.227_229del, results in the deletion of 1 amino acid(s) of the SERPINA1 protein (p.Phe76del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775982338, gnomAD 0.04%). This variant has been observed in individuals with alpha-1-antitrypsin deficiency (AATD) (PMID: 2788166, 3491442, 6600898, 15744045, 22291048, 24183282, 27296815, 27882547). It has also been observed to segregate with disease in related individuals. This variant is also known as PI*Mmalton or Phe52del. ClinVar contains an entry for this variant (Variation ID: 315028). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects SERPINA1 function (PMID: 2788166). For these reasons, this variant has been classified as Pathogenic.
Comment:
amino acid deletion
Comment:
The SERPINA1 c.227_229delTCT variant is predicted to result in an in-frame deletion (p.Phe76del). This variant, also described as p.Phe52del and the PI*Mmalton allele, has been reported in the homozygous and compound heterozygous states to be pathogenic for alpha-1-antitrypsin deficiency (Curiel et al. 1989. PubMed ID: 2788166; Fraizer et al. 1989. PubMed ID: 2786335; Rodriguez-Frias et al. 2012. PubMed ID: 22291048; Silva et al. 2016. PubMed ID: 27296815). This variant produces a poorly folded protein and is associated with an increased risk of pulmonary emphysema and liver disease (Curiel et al. 1989. PubMed ID: 2788166; Giacopuzzi et al. 2018. PubMed ID: 29882371; Silva et al. 2016. PubMed ID: 27296815). The mode of inheritance of SERPINA1-related disease is complicated by co-dominance. The PI*Mmalton allele has been detected in the heterozygous state in healthy individuals of advanced age; however, heterozygotes are at an increased risk of respiratory complications, which is elevated by cigarette smoke exposure (Aiello et al. 2020. PubMedID 32076552). A homozygous individual was reported with liver fibrosis and cirhosis, and compound heterozygosity with the Z allele was associated with chronic pulmonary obstructive disease (Joly et al. 2015. PubMed ID: 26446624). This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as pathogenic.
Germline Functional Evidence
| There is no functional evidence in ClinVar for this variation. If you have generated functional data for this variation, please consider submitting that data to ClinVar. |
Comment:
The SERPINA1 c.227_229delTCT (p.Phe76del) variant is an inframe deletion variant which is often described in the literature as p.Phe51del, p.Phe52del, PI*MMalton, or MMalton. The p.Phe76del variant has been reported in at least seven studies in 16 patients with reduced serum alpha-1 antitrypsin (AAT) concentrations and other phenotypic features consistent with alpha-1 antitrypsin deficiency, including in one in a homozygous state and in 15 in a compound heterozygous state (Sproule et al. 1983; Allen et al 1986; Curiek et al. 1989; Frazier et al. 1989; Lara et al. 2013; Suh-Lailam et al. 2014; Beletic et al 2014). The p.Phe76del variant has also been found in a heterozygous state in at least three individuals with reduced alpha-1 antitrypsin concentrations and normal pulmonary function. The variant was absent from 311 controls and is reported at a frequency of 0.00069 in the East Asian population of the Exome Aggregation Consortium. Curiel et al. (1989) demonstrated abnormal intracellular accumulation of newly synthesized AAT protein in an individual homozygous for the p.Phe76del variant, with inflammation, mild fibrosis, and intrahepatocyte AAT protein accumulation revealed on liver biopsy. Furthermore, functional analysis by retroviral gene transfer of AAT cDNA with the variant into murine cells demonstrated that abnormal intracellular accumulation of AAT protein occurred (Curiel et al 1989). Based on the collective evidence, the p.Phe76del variant is classified as pathogenic for alpha-1 antitrypsin deficiency. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Comment:
This variant, c.227_229del, results in the deletion of 1 amino acid(s) of the SERPINA1 protein (p.Phe76del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs775982338, gnomAD 0.04%). This variant has been observed in individuals with alpha-1-antitrypsin deficiency (AATD) (PMID: 2788166, 3491442, 6600898, 15744045, 22291048, 24183282, 27296815, 27882547). It has also been observed to segregate with disease in related individuals. This variant is also known as PI*Mmalton or Phe52del. ClinVar contains an entry for this variant (Variation ID: 315028). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. Experimental studies have shown that this variant affects SERPINA1 function (PMID: 2788166). For these reasons, this variant has been classified as Pathogenic.
Comment:
amino acid deletion
Comment:
The SERPINA1 c.227_229delTCT variant is predicted to result in an in-frame deletion (p.Phe76del). This variant, also described as p.Phe52del and the PI*Mmalton allele, has been reported in the homozygous and compound heterozygous states to be pathogenic for alpha-1-antitrypsin deficiency (Curiel et al. 1989. PubMed ID: 2788166; Fraizer et al. 1989. PubMed ID: 2786335; Rodriguez-Frias et al. 2012. PubMed ID: 22291048; Silva et al. 2016. PubMed ID: 27296815). This variant produces a poorly folded protein and is associated with an increased risk of pulmonary emphysema and liver disease (Curiel et al. 1989. PubMed ID: 2788166; Giacopuzzi et al. 2018. PubMed ID: 29882371; Silva et al. 2016. PubMed ID: 27296815). The mode of inheritance of SERPINA1-related disease is complicated by co-dominance. The PI*Mmalton allele has been detected in the heterozygous state in healthy individuals of advanced age; however, heterozygotes are at an increased risk of respiratory complications, which is elevated by cigarette smoke exposure (Aiello et al. 2020. PubMedID 32076552). A homozygous individual was reported with liver fibrosis and cirhosis, and compound heterozygosity with the Z allele was associated with chronic pulmonary obstructive disease (Joly et al. 2015. PubMed ID: 26446624). This variant is reported in 0.040% of alleles in individuals of East Asian descent in gnomAD. This variant is interpreted as pathogenic.
Citations for germline classification of this variant
Help| Title | Author | Journal | Year | Link |
|---|---|---|---|---|
| Alpha-1 Antitrypsin Deficiency. | Adam MP | - | 2023 | PMID: 20301692 |
| Molecular characterization of PI*Q0(la palma) , a new alpha-1-antitrypsin null allele that combines two defective genetic variants. | Hernández-Pérez JM | Clinical genetics | 2017 | PMID: 27882547 |
| Alpha-1-antitrypsin (SERPINA1) mutation spectrum: Three novel variants and haplotype characterization of rare deficiency alleles identified in Portugal. | Silva D | Respiratory medicine | 2016 | PMID: 27296815 |
| Is an integrative laboratory algorithm more effective in detecting alpha-1-antitrypsin deficiency in patients with premature chronic obstructive pulmonary disease than AAT concentration based screening approach? | Beletic A | Biochemia medica | 2014 | PMID: 24969923 |
| Challenging identification of a novel PiISF and the rare PiMmaltonZ α1-antitrypsin deficiency variants in two patients. | Suh-Lailam BB | American journal of clinical pathology | 2014 | PMID: 24713750 |
| Alpha-1-antitrypsin deficiency associated with the Mattawa variant. | Lara B | Archivos de bronconeumologia | 2013 | PMID: 24183282 |
| Rare alpha-1-antitrypsin variants: are they really so rare? | Rodriguez-Frias F | Therapeutic advances in respiratory disease | 2012 | PMID: 22291048 |
| Prevalence and phenotype of subjects carrying rare variants in the Italian registry for alpha1-antitrypsin deficiency. | Ferrarotti I | Journal of medical genetics | 2005 | PMID: 15744045 |
| Molecular basis of the liver and lung disease associated with the alpha 1-antitrypsin deficiency allele Mmalton. | Curiel DT | The Journal of biological chemistry | 1989 | PMID: 2788166 |
| In-frame single codon deletion in the Mmalton deficiency allele of alpha 1-antitrypsin. | Fraizer GC | American journal of human genetics | 1989 | PMID: 2786335 |
| Molecular characterisation of three alpha-1-antitrypsin deficiency variants: proteinase inhibitor (Pi) nullcardiff (Asp256----Val); PiMmalton (Phe51----deletion) and PiI (Arg39----Cys). | Graham A | Human genetics | 1989 | PMID: 2606478 |
| Alpha 1 antitrypsin deficiency due to MMaltonZ phenotype: case report and family study. | Allen MB | Thorax | 1986 | PMID: 3491442 |
| Pulmonary function associated with the Mmalton deficient variant of alpha 1-antitrypsin. | Sproule BJ | The American review of respiratory disease | 1983 | PMID: 6600898 |
| http://www.egl-eurofins.com/emvclass/emvclass.php?approved_symbol=SERPINA1 | - | - | - | - |
| click to load more click to collapse | ||||
Text-mined citations for rs775982338 ...
HelpThese citations are identified by LitVar using
the rs number, so they may include citations for more than one variant
at this location. Please review the LitVar results carefully for your
variant of interest.
Record last updated Nov 10, 2024
This date represents the last time this VCV record was updated. The update may be due to an update to one of the included submitted records (SCVs), or due to an update that ClinVar made to the variant such as adding HGVS expressions or a rs number. So this date may be different from the date of the “most recent submission” reported at the top of this page.