UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1114

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

Type of variant:

LP/P [Disclaimer]

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 Cysteine (C) at position 1114 (R1114C, p.Arg1114Cys).

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 medium size and polar (C)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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 GACI2 and PXE; autosomal recessive.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs63749794 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1114

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:

LFLLYAGFQSLYVVSSCQLR R LESASYSSVCSHMAETFQGS

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                         LFLLYAGFQSLYVVSSCQLRRLESASYSSVCSHMAETFQGS

Mouse                         LMVLYAGFQSLYVATSCQLRRLESARYSSVCSHMAETFQGS

Rat                           LMLLYAGFQSLYVATCCQLRRLESASYSSVCSHLAETFQGS

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	1105 – 1175	Cytoplasmic
Domain	947 – 1228	ABC transmembrane type-1 2
Alternative sequence	100 – 1503	Missing. In isoform 2.
Alternative sequence	872 – 1503	Missing. In isoform 3.

Literature citations

ABCC6 mutations in Italian families affected by pseudoxanthoma elasticum (PXE).
Gheduzzi D.; Guidetti R.; Anzivino C.; Tarugi P.; Di Leo E.; Quaglino D.; Ronchetti I.P.;
Hum. Mutat. 24:438-439(2004)
Cited for: VARIANTS PXE ARG-364; LYS-411; GLY-440; GLN-518; CYS-600; MET-810; PRO-820; CYS-1114; MET-1130; GLN-1138; CYS-1339; SER-1346 AND LYS-1400;

Molecular genetics of pseudoxanthoma elasticum: type and frequency of mutations in ABCC6.
Miksch S.; Lumsden A.; Guenther U.P.; Foernzler D.; Christen-Zach S.; Daugherty C.; Ramesar R.K.; Lebwohl M.; Hohl D.; Neldner K.H.; Lindpaintner K.; Richards R.I.; Struk B.;
Hum. Mutat. 26:235-248(2005)
Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; GLU-129; ARG-317; ARG-355; ARG-364; ASP-370; GLY-391; GLY-398; HIS-495; GLN-518; SER-551; VAL-594; PRO-677; TRP-760; GLN-765; GLN-807; TRP-807; GLU-1056; PHE-1036 DEL; PHE-1048 DEL; CYS-1114; LEU-1121; GLN-1138; TRP-1138; GLN-1164; CYS-1221; TRP-1235; ARG-1302; PRO-1303; GLN-1314; CYS-1339; LEU-1339 AND TRP-1357; VARIANTS THR-78; LYS-125; VAL-158; GLY-265; GLU-281; VAL-319; ILE-514; ALA-614; GLN-632; LYS-724; VAL-742; ILE-946; TRP-1064 AND GLN-1268;

Mutation detection in the ABCC6 gene and genotype-phenotype analysis in a large international case series affected by pseudoxanthoma elasticum.
Pfendner E.G.; Vanakker O.M.; Terry S.F.; Vourthis S.; McAndrew P.E.; McClain M.R.; Fratta S.; Marais A.S.; Hariri S.; Coucke P.J.; Ramsay M.; Viljoen D.; Terry P.F.; De Paepe A.; Uitto J.; Bercovitch L.G.;
J. Med. Genet. 44:621-628(2007)
Cited for: VARIANTS PXE 60-ARG--TYR-62 DEL; ARG-317; ARG-364; TRP-382; GLY-391; ASN-392; HIS-463 HIS-495; GLN-518; PRO-535; SER-568; CYS-600; CYS-663; PRO-698; ASP-699; PRO-726; LYS-751; ARG-755; TRP-760; GLN-765; ASN-777; MET-811; SER-881; ILE-944; THR-950; ARG-992; CYS-1114; MET-1130; ALA-1133; GLN-1138; TRP-1138; THR-1139; GLN-1164; CYS-1221; HIS-1221; ILE-1226; PHE-1298; ARG-1302; PRO-1303; GLN-1314; TRP-1314; GLN-1335; CYS-1339; HIS-1339 AND THR-1342;

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.
Nitschke Y.; Baujat G.; Botschen U.; Wittkampf T.; du Moulin M.; Stella J.; Le Merrer M.; Guest G.; Lambot K.; Tazarourte-Pinturier M.F.; Chassaing N.; Roche O.; Feenstra I.; Loechner K.; Deshpande C.; Garber S.J.; Chikarmane R.; Steinmann B.; Shahinyan T.; Martorell L.; Davies J.; Smith W.E.; Kahler S.G.; McCulloch M.; Wraige E.; Loidi L.; Hohne W.; Martin L.; Hadj-Rabia S.; Terkeltaub R.; Rutsch F.;
Am. J. Hum. Genet. 90:25-39(2012)
Cited for: VARIANTS GACI2 ARG-355; GLY-391; PHE-590; PHE-1036 DEL; CYS-1114; HIS-1221 AND TRP-1314;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95255: Variant p.Arg1114Cys