UniProtKB/Swiss-Prot Q9NP58: Variant p.Leu293Val

ATP-binding cassette sub-family B member 6
Gene: ABCB6
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Variant information Variant position:

293 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 Leucine (L) to Valine (V) at position 293 (L293V, p.Leu293Val). 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 hydrophobic. 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 variations in ABCB6 define the Langereis blood group system (LAN) [MIM:111600]. Individuals with Lan(-) blood group lack the Lan antigen on their red blood cells. These individuals may have anti-Lan antibodies in their serum, which can cause transfusion reactions or hemolytic disease of the fetus or newborn. The Lan(-) blood group is only clinically significant in transfusion settings or during pregnancy; otherwise Lan(-) individuals have no clinical features. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs13018440 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

GLERALNVLVPIFYRNIVNL L TEKAPWNSLAWTVTSYVFLK 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                         GLERALNVLVPIFYRNIVNLLTEKAPWNSLAWTVTSYVFLK

Mouse                         GLERALNVLVPIFYRDIVNLLTAKAPWSSLAWTVTTYVFLK

Rat                           GLDRALNVLVPIFYRDIVNLLTSKAPWSSLAWTVTTYVFLK

Xenopus tropicalis            GLERAINVFVPIYAKKIVDGLTEDSTWNILAVTVCIYVLLK

Slime mold                    FFSKLINLSVPLIFKNIINTLPEKVEWHLLILYGVLFLIQK

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 – 842	ATP-binding cassette sub-family B member 6
Transmembrane	292 – 312	Helical
Domain	265 – 556	ABC transmembrane type-1
Mutagenesis	286 – 286	Y -> A. Loss of substrate-stimulate ATPase activity. Impairs protein expression.
Helix	259 – 294

Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.

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.