Due to scheduled maintenance work, this service will not be available from Tuesday August 23rd 06:00 pm until Wednesday August 24th 08:00 am
CEST . Apologies for the inconvenience.
UniProtKB/Swiss-Prot O15439 : Variant p.Arg820Ile
ATP-binding cassette sub-family C member 4
Gene: ABCC4
Variant information
Variant position: 820 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: LB/BThe 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 Isoleucine (I) at position 820 (R820I, p.Arg820Ile).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 hydrophobic (I)The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -3The 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: Transport properties comparable to wild-type.Any additional useful information about the variant.
Other resources: Links to websites of interest for the variant.
Sequence information
Variant position: 820 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1325 The length of the canonical sequence.
Location on the sequence:
KMFESILKAPVLFFDRNPIG
R ILNRFSKDIGHLDDLLPLTF
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 KMFESILKAPVLFFDRNPIGR ILNRFSKDIGHLDDLLPLTF
Mouse RMFESILKAPVLFFDRNPIGR ILNRFSKDIGHMDDLLPLTF
Rat RMFESILKAPVLFFDRNPIGR ILNRFSKDIGHMDDLLPLTF
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 – 1325
ATP-binding cassette sub-family C member 4
Domain
714 – 1005
ABC transmembrane type-1 2
Literature citations
6-mercaptopurine and 9-(2-phosphonyl-methoxyethyl) adenine (PMEA) transport altered by two missense mutations in the drug transporter gene ABCC4.
Janke D.; Mehralivand S.; Strand D.; Goedtel-Armbrust U.; Habermeier A.; Gradhand U.; Fischer C.; Toliat M.R.; Fritz P.; Zanger U.M.; Schwab M.; Fromm M.F.; Nuernberg P.; Wojnowski L.; Closs E.I.; Lang T.;
Hum. Mutat. 29:659-669(2008)
Cited for: VARIANTS CYS-556; ILE-776; ILE-820; PHE-854 AND VAL-866; CHARACTERIZATION OF VARIANTS TRP-187; ASN-304; GLU-487; CYS-556; LYS-757; ILE-776; ILE-820; PHE-854; VAL-866 AND MET-1142; CATALYTIC ACTIVITY; FUNCTION;
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.