UniProtKB/Swiss-Prot Q9NP59: Variant p.Gln248His

Solute carrier family 40 member 1
Gene: SLC40A1
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Variant information Variant position:

248 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 Glutamine (Q) to Histidine (H) at position 248 (Q248H, p.Gln248His). 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:

Similar physico-chemical property. Both residues are medium size and polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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
Variant description:

Associated with mild anemia and a tendency to iron loading. Prevents hepcidin/HAMP-induced degradation. Protects against severe malaria disease. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs11568350 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

QKTPALAVKAGLKEEETELK Q LNLHKDTEPKPLEGTHLMGV 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                         QKTPALAVKAGLKE-EETELKQLNLHKD--TEPKPLEGTHLMGV

Mouse                         QKTPALAVKAALKV-EESELKQLTSPKD--TEPKPLEGTHL

Rat                           QKTPALAVKAALKV-EESELKQLTSPKD--TEPKPLEGTHL

Zebrafish                     QKTPALAFKAGQKDSDDQELKHLNIQKEIGNTESPVEASQL

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 – 571	Solute carrier family 40 member 1
Topological domain	230 – 306	Cytoplasmic
Mutagenesis	236 – 236	K -> R. No loss of ubiquitination; when associated with R-253.
Mutagenesis	240 – 240	K -> E. Loss of HAMP-induced endocytosis.
Mutagenesis	253 – 253	K -> R. No loss of ubiquitination; when associated with R-236.

Literature citations
Erythrocytic ferroportin reduces intracellular iron accumulation, hemolysis, and malaria risk.
Zhang D.L.; Wu J.; Shah B.N.; Greutelaers K.C.; Ghosh M.C.; Ollivierre H.; Su X.Z.; Thuma P.E.; Bedu-Addo G.; Mockenhaupt F.P.; Gordeuk V.R.; Rouault T.A.;
Science 359:1520-1523(2018)
Cited for: FUNCTION; TRANSPORTER ACTIVITY; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANT HIS-248; Iron overload in Africans and African-Americans and a common mutation in the SCL40A1 (ferroportin 1) gene.
Gordeuk V.R.; Caleffi A.; Corradini E.; Ferrara F.; Jones R.A.; Castro O.; Onyekwere O.; Kittles R.; Pignatti E.; Montosi G.; Garuti C.; Gangaidzo I.T.; Gomo Z.A.R.; Moyo V.M.; Rouault T.A.; MacPhail P.; Pietrangelo A.;
Blood Cells Mol. Dis. 31:299-304(2003)
Cited for: VARIANT HIS-248;

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.