UniProtKB/Swiss-Prot P49279: Variant p.Asp543Asn

Natural resistance-associated macrophage protein 1
Gene: SLC11A1
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Variant information Variant position:

543 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Aspartate (D) to Asparagine (N) at position 543 (D543N, p.Asp543Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Polymorphism:

Genetic variation in SLC11A1 is associated with susceptibility to infection with Mycobacterium ulcerans [MIM:610446].Genetic variations in SLC11A1 determine Mycobacterium tuberculosis susceptibility [MIM:607948]. - Additional information on the polymorphism described.
Variant description:

Risk factor for infection with Mycobacterium ulcerans. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs17235409 [ dbSNP | Ensembl ]

Sequence information Variant position:

543 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

550 The length of the canonical sequence.
Location on the sequence:

GATFLAHSSHHHFLYGLLEE D QKGETSG The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         G-ATFLAHSSHHHFLYGLLEEDQ-KGETSG

                              G-VTLLAHSSHQHFLYGLPDVEE-KGKI

Mouse                         G-ATFLTHSSHKHFLYGLPNEEQGGVQG

Rat                           G-AKFLTHSSHQRFLYGLPIEEQEGREG

Pig                           G-ATLLVHSSHQHFLYGLLE--------

Bovine                        G-ATLLAHSSHQRFLYGLPEEDQEKGRT

Sheep                         G-ATRLAHSSHQRFLYGLPGEDQEEGRT

Chicken                       G-ARFLARGRYNRFSFDVTADVP-GLAG

Slime mold                    GQENFNSMTKKIKNLFNNNSNQT-YNNI

Sequence annotation in neighborhood:

The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:

Type: the type of sequence feature.
Positions: endpoints of the sequence feature.
Description: contains additional information about the feature.

Type	Positions	Description
Chain	1 – 550	Natural resistance-associated macrophage protein 1
Topological domain	517 – 550	Cytoplasmic

Literature citations
Identification of polymorphisms and sequence variants in the human homologue of the mouse natural resistance-associated macrophage protein gene.
Liu J.; Fujiwara T.M.; Buu N.T.; Sanchez F.O.; Cellier M.; Paradis A.J.; Frappier D.; Skamene E.; Gros P.; Morgan K.; Schurr E.;
Am. J. Hum. Genet. 56:845-853(1995)
Cited for: VARIANTS VAL-318 AND ASN-543; Susceptibility to Buruli ulcer is associated with the SLC11A1 (NRAMP1) D543N polymorphism.
Stienstra Y.; van der Werf T.S.; Oosterom E.; Nolte I.M.; van der Graaf W.T.A.; Etuaful S.; Raghunathan P.L.; Whitney E.A.S.; Ampadu E.O.; Asamoa K.; Klutse E.Y.; te Meerman G.J.; Tappero J.W.; Ashford D.A.; van der Steege G.;
Genes Immun. 7:185-189(2006)
Cited for: ASSOCIATION OF VARIANT ASN-543 WITH SUSCEPTIBILITY TO INFECTION WITH MYCOBACTERIUM ULCERANS;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.