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UniProtKB/Swiss-Prot Q9NP58: Variant p.Leu811Val

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

Variant position:  811
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Leucine (L) to Valine (V) at position 811 (L811V, p.Leu811Val).
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

Involvement in disease:  Microphthalmia, isolated, with coloboma, 7 (MCOPCB7) [MIM:614497]: A disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present. Ocular colobomas are a set of malformations resulting from abnormal morphogenesis of the optic cup and stalk, and the fusion of the fetal fissure (optic fissure). {ECO:0000269|PubMed:22226084}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MCOPCB7; hypomorphic mutation.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  811
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:   ADQILVIKDGCIVERGRHEA  L LSRGGVYADMWQLQQGQEET
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                         ADQILVIKDGCIVERGRHEALLSRGGVYADMWQLQQ-GQE---ET

Mouse                         ADQILVIKDGCIIERGRHEALLSRGGVYAEMWQLQQQGQE-

Rat                           ADQILVIKDGCIIERGRHEALLSRGGVYAEMWQLQQQGQE-

Xenopus tropicalis            SDQILVLKEGQIVERGRHEELLLKGGVYAGMWQKQQSGSES

Slime mold                    CDEILVLKGGHIVERGSHSYLLDFNGDYAHLWNQQQLSAS-

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.

TypePositionsDescription
Chain 1 – 842 ATP-binding cassette sub-family B member 6, mitochondrial
Domain 590 – 824 ABC transporter
Helix 808 – 814


Literature citations

ABCB6 mutations cause ocular coloboma.
Wang L.; He F.; Bu J.; Liu X.; Du W.; Dong J.; Cooney J.D.; Dubey S.K.; Shi Y.; Gong B.; Li J.; McBride P.F.; Jia Y.; Lu F.; Soltis K.A.; Lin Y.; Namburi P.; Liang C.; Sundaresan P.; Paw B.H.; Li D.Y.; Phillips J.D.; Yang Z.;
Am. J. Hum. Genet. 90:40-48(2012)
Cited for: SUBCELLULAR LOCATION; TISSUE SPECIFICITY; VARIANTS MCOPCB7 THR-57 AND VAL-811; CHARACTERIZATION OF VARIANTS MCOPCB7 THR-57 AND VAL-811;

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.