NM_000578.4(SLC11A1):c.1627G>A (p.Asp543Asn) AND Buruli ulcer, susceptibility to

Germline classification:: risk factor (1 submission)
Last evaluated:: Apr 1, 2006
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:: RCV000009814.3

Allele description [Variation Report for NM_000578.4(SLC11A1):c.1627G>A (p.Asp543Asn)]

NM_000578.4(SLC11A1):c.1627G>A (p.Asp543Asn)

Gene:

SLC11A1:solute carrier family 11 member 1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q35

Genomic location:

Preferred name:

NM_000578.4(SLC11A1):c.1627G>A (p.Asp543Asn)

HGVS:

NC_000002.12:g.218395009G>A
NG_012128.1:g.17981G>A
NG_030418.1:g.1672G>A
NM_000578.4:c.1627G>AMANE SELECT
NP_000569.3:p.Asp543Asn
NC_000002.11:g.219259732G>A
P49279:p.Asp543Asn

Protein change:

D543N; ASP543ASN

Links:

UniProtKB: P49279#VAR_004631; OMIM: 600266.0002; dbSNP: rs17235409

NCBI 1000 Genomes Browser:

rs17235409

Molecular consequence:

NM_000578.4:c.1627G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Buruli ulcer, susceptibility to
Synonyms:: MYCOBACTERIUM ULCERANS, SUSCEPTIBILITY TO
Identifiers:: MONDO: MONDO:0012499; MedGen: C1864868; OMIM: 610446

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000030035	OMIM	no assertion criteria provided	risk factor (Apr 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000030035

OMIM

no assertion criteria provided

risk factor
(Apr 1, 2006)

germline

literature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Susceptibility to Buruli ulcer is associated with the SLC11A1 (NRAMP1) D543N polymorphism.

Stienstra Y, van der Werf TS, Oosterom E, Nolte IM, van der Graaf WT, Etuaful S, Raghunathan PL, Whitney EA, Ampadu EO, Asamoa K, Klutse EY, te Meerman GJ, Tappero JW, Ashford DA, van der Steege G.

Genes Immun. 2006 Apr;7(3):185-9.

PubMed [citation]

PMID:: 16395392

Details of each submission

From OMIM, SCV000030035.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

Stienstra et al. (2006) studied 182 patients with Buruli ulcer disease (610446) and 191 healthy subjects in Ghana and found that a G-to-A SNP in exon 15 of the SLC11A1 gene, resulting in an asp543-to-asn (D543N) substitution, was significantly associated with susceptibility to disease.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Dec 24, 2023

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