UniProtKB/Swiss-Prot Q9NP58: Variant p.Arg69Gly

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

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

US 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 Arginine (R) to Glycine (G) at position 69 (R69G, p.Arg69Gly). 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 large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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:

In a breast cancer sample; somatic mutation. Any additional useful information about the variant.

Sequence information Variant position:

69 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:

PCRRRERPAGADSLSWGAGP R ISPYVLQLLLATLQAALPLA 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                         PCRR-RERPAGADSLSWGAGPRISPYVLQLLLATLQAALPLA

Mouse                         PRRR-REVPAGPEELSWAAGPRVAPYVLQLFLATLQMALPL

Rat                           PCRR-REVPAGTEELSWAAGPRVAPYALQLSLAILQMALPL

Xenopus tropicalis            LYAR-HSTTMEPKYI-----PRSRLYRLQIVLSVV---LIL

Slime mold                    SYRQVKQSEADTIEIDSLKNGDIEKYNEENDKISR---IPL

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	48 – 72	Cytoplasmic
Region	1 – 236	Required for ATPase activity
Region	1 – 205	Required for the lysosomal targeting
Mutagenesis	50 – 50	C -> A. Increases migration in the absence of DTT; when associated with A-120. Reduces migration in with the presence of DTT; when associated with A-120.

Literature citations
The consensus coding sequences of human breast and colorectal cancers.
Sjoeblom T.; Jones S.; Wood L.D.; Parsons D.W.; Lin J.; Barber T.D.; Mandelker D.; Leary R.J.; Ptak J.; Silliman N.; Szabo S.; Buckhaults P.; Farrell C.; Meeh P.; Markowitz S.D.; Willis J.; Dawson D.; Willson J.K.V.; Gazdar A.F.; Hartigan J.; Wu L.; Liu C.; Parmigiani G.; Park B.H.; Bachman K.E.; Papadopoulos N.; Vogelstein B.; Kinzler K.W.; Velculescu V.E.;
Science 314:268-274(2006)
Cited for: VARIANT [LARGE SCALE ANALYSIS] GLY-69;

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.