UniProtKB/Swiss-Prot Q9NP58: Variant p.Ala681Thr

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

681 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 Alanine (A) to Threonine (T) at position 681 (A681T, p.Ala681Thr). 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 small size and hydrophobic (A) to medium size and polar (T) 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
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.
Variant description:

May be a modifier of disease severity in porphyria patients; loss of expression. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs142421126 [ dbSNP | Ensembl ]

Sequence information Variant position:

681 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:

SLRSHIGVVPQDTVLFNDTI A DNIRYGRVTAGNDEVEAAAQ 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                         SLRSHIGVVPQDTVLFNDTIADNIRYGRVTAGNDEVEAAAQ

Mouse                         SLRSHIGVVPQDTVLFNDTIANNIRYGRVTAGDSEVEAAAQ

Rat                           SLRSHIGVVPQDTVLFNDTIANNIRYGRVTAGDSEIQAAAQ

Xenopus tropicalis            SLRSHIGVVPQDTVLFNDTIRNNIRYGRVSATDDEVEEAAA

Slime mold                    SLRSIIGVVPQETVLFNDTVAYNIGFGNREANDDQLIDASR

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
Topological domain	551 – 842	Cytoplasmic
Domain	590 – 824	ABC transporter
Mutagenesis	677 – 677	N -> Q. Does not affect N-glycosylation. Does not affect N-glycosylation; when associated with Q-447; Q-498; and Q-775. Does not affect trafficking from endoplasmic reticulum; when associated with Q-447; Q-498; and Q-775.
Helix	680 – 685

Literature citations
The severity of hereditary porphyria is modulated by the porphyrin exporter and Lan antigen ABCB6.
Fukuda Y.; Cheong P.L.; Lynch J.; Brighton C.; Frase S.; Kargas V.; Rampersaud E.; Wang Y.; Sankaran V.G.; Yu B.; Ney P.A.; Weiss M.J.; Vogel P.; Bond P.J.; Ford R.C.; Trent R.J.; Schuetz J.D.;
Nat. Commun. 7:12353-12353(2016)
Cited for: VARIANTS GLN-192; TRP-276; THR-492; SER-521; SER-588 AND THR-681; CHARACTERIZATION OF VARIANTS TRP-276; THR-492 AND SER-521; CATALYTIC ACTIVITY; FUNCTION; SUBCELLULAR LOCATION;

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.