UniProtKB/Swiss-Prot O95255: Variant p.Met848Val

ATP-binding cassette sub-family C member 6
Gene: ABCC6
Feedback?

Variant information Variant position:

848 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 Methionine (M) to Valine (V) at position 848 (M848V, p.Met848Val). 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
Other resources:

Links to websites of interest for the variant.

Variant rs6416668 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1503 The length of the canonical sequence.
Location on the sequence:

NGAIAEMGSYQELLQRKGAL M CLLDQARQPGDRGEGETEPG 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                         NGAIAEMGSYQELLQRKGALMCLLDQARQPGDRGEGETEPG

Mouse                         NGTIAEMGSYQDLLQRNGALVGLLDGARQPAG-----THDA

Rat                           NGTIAEMGSYQDLLHRNGALVGLLDGARQPAGEGEGEAHAA

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 – 1503	ATP-binding cassette sub-family C member 6
Topological domain	597 – 939	Cytoplasmic
Domain	629 – 853	ABC transporter 1
Alternative sequence	100 – 1503	Missing. In isoform 2.
Alternative sequence	806 – 871	TRILVTHALHILPQADWIIVLANGAIAEMGSYQELLQRKGALMCLLDQARQPGDRGEGETEPGTST -> KQNLGPAPRTPEAPLQAGGPSLDARGPSSQSLRRTVPLQKPRQRFLWMTLTGQDGQQERTASNTAG. In isoform 3.
Helix	846 – 852

Literature citations
MOAT-E (ARA) is a full-length MRP/cMOAT subfamily transporter expressed in kidney and liver.
Belinsky M.G.; Kruh G.D.;
Br. J. Cancer 80:1342-1349(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT VAL-848; Expression of human MRP6, a homologue of the multidrug resistance protein gene MRP1, in tissues and cancer cells.
Kool M.; van der Linden M.; de Haas M.; Baas F.; Borst P.;
Cancer Res. 59:175-182(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS TRP-64 AND VAL-848; Identification of a new splice variant of the human ABCC6 transporter.
Armentano M.F.; Ostuni A.; Infantino V.; Iacobazzi V.; Castiglione Morelli M.A.; Bisaccia F.;
Biochem. Res. Int. 2008:912478-912478(2008)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 3); VARIANTS VAL-319 AND VAL-848; ALTERNATIVE SPLICING; Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q.
Loftus B.J.; Kim U.-J.; Sneddon V.P.; Kalush F.; Brandon R.; Fuhrmann J.; Mason T.; Crosby M.L.; Barnstead M.; Cronin L.; Mays A.D.; Cao Y.; Xu R.X.; Kang H.-L.; Mitchell S.; Eichler E.E.; Harris P.C.; Venter J.C.; Adams M.D.;
Genomics 60:295-308(1999)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANTS TRP-64 AND VAL-848; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 2); VARIANTS ALA-614; GLN-632 AND VAL-848; Spectrum of genetic variation at the ABCC6 locus in South Africans: Pseudoxanthoma elasticum patients and healthy individuals.
Ramsay M.; Greenberg T.; Lombard Z.; Labrum R.; Lubbe S.; Aron S.; Marais A.S.; Terry S.; Bercovitch L.; Viljoen D.;
J. Dermatol. Sci. 54:198-204(2009)
Cited for: VARIANTS PXE GLN-518; PRO-726; GLN-1138; ARG-1302; PRO-1335 AND CYS-1339; VARIANTS THR-78; GLY-265; MET-417; ALA-614; GLN-632; LEU-724; VAL-742; VAL-848 AND ILE-946;

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.